dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs6025
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:169549811 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.016744 (4432/264690, TOPMED)T=0.022585 (3828/169494, ALFA)T=0.017619 (2471/140250, GnomAD) (+ 5 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- F5 : Missense Variant
- Publications
- 184 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 185916 | C=0.977592 | T=0.022408 | 0.9557 | 0.000516 | 0.043783 | 0 |
| European | Sub | 145872 | C=0.974471 | T=0.025529 | 0.949572 | 0.000631 | 0.049797 | 0 |
| African | Sub | 15632 | C=0.99507 | T=0.00493 | 0.990148 | 0.0 | 0.009852 | 0 |
| African Others | Sub | 550 | C=0.998 | T=0.002 | 0.996364 | 0.0 | 0.003636 | 0 |
| African American | Sub | 15082 | C=0.99496 | T=0.00504 | 0.989922 | 0.0 | 0.010078 | 0 |
| Asian | Sub | 3714 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 3016 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 698 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 1254 | C=0.9872 | T=0.0128 | 0.974482 | 0.0 | 0.025518 | 0 |
| Latin American 2 | Sub | 5380 | C=0.9879 | T=0.0121 | 0.975836 | 0.0 | 0.024164 | 0 |
| South Asian | Sub | 360 | C=0.992 | T=0.008 | 0.983333 | 0.0 | 0.016667 | 0 |
| Other | Sub | 13704 | C=0.97950 | T=0.02050 | 0.959282 | 0.000292 | 0.040426 | 0 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.983256 | T=0.016744 |
| Allele Frequency Aggregator | Total | Global | 169494 | C=0.977415 | T=0.022585 |
| Allele Frequency Aggregator | European | Sub | 135734 | C=0.974642 | T=0.025358 |
| Allele Frequency Aggregator | Other | Sub | 12252 | C=0.97984 | T=0.02016 |
| Allele Frequency Aggregator | African | Sub | 10800 | C=0.99491 | T=0.00509 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5380 | C=0.9879 | T=0.0121 |
| Allele Frequency Aggregator | Asian | Sub | 3714 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1254 | C=0.9872 | T=0.0128 |
| Allele Frequency Aggregator | South Asian | Sub | 360 | C=0.992 | T=0.008 |
| gnomAD - Genomes | Global | Study-wide | 140250 | C=0.982381 | T=0.017619 |
| gnomAD - Genomes | European | Sub | 75950 | C=0.97300 | T=0.02700 |
| gnomAD - Genomes | African | Sub | 42032 | C=0.99534 | T=0.00466 |
| gnomAD - Genomes | American | Sub | 13662 | C=0.99041 | T=0.00959 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.9789 | T=0.0211 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.9893 | T=0.0107 |
| The PAGE Study | Global | Study-wide | 78700 | C=0.99382 | T=0.00618 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.99459 | T=0.00541 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.99084 | T=0.00916 |
| The PAGE Study | Asian | Sub | 8318 | C=0.9995 | T=0.0005 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.9972 | T=0.0028 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9932 | T=0.0068 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.9868 | T=0.0132 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.9948 | T=0.0052 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9906 | T=0.0094 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9884 | T=0.0116 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9825 | T=0.0175 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.988 | T=0.012 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9941 | T=0.0059 |
| 1000Genomes_30x | African | Sub | 1786 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.9889 | T=0.0111 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9884 | T=0.0116 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | C=0.990 | T=0.010 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.0000 | A=0.0000 |
| HapMap | Global | Study-wide | 1134 | C=0.9912 | T=0.0088 |
| HapMap | American | Sub | 670 | C=0.987 | T=0.013 |
| HapMap | Europe | Sub | 176 | C=0.994 | T=0.006 |
| HapMap | Asian | Sub | 168 | C=1.000 | T=0.000 |
| HapMap | African | Sub | 120 | C=1.000 | T=0.000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.169549811C>A |
| GRCh38.p14 chr 1 | NC_000001.11:g.169549811C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.169519049T>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.169519049T>A |
| F5 RefSeqGene (LRG_553) | NG_011806.1:g.41721G>T |
| F5 RefSeqGene (LRG_553) | NG_011806.1:g.41721G>A |
Gene: F5, coagulation factor V
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| F5 transcript | NM_000130.5:c.1601G>T | R [CGA] > L [CTA] | Coding Sequence Variant |
| coagulation factor V preproprotein | NP_000121.2:p.Arg534Leu | R (Arg) > L (Leu) | Missense Variant |
| F5 transcript | NM_000130.5:c.1601G>A | R [CGA] > Q [CAA] | Coding Sequence Variant |
| coagulation factor V preproprotein | NP_000121.2:p.Arg534Gln | R (Arg) > Q (Gln) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: C= (allele ID:
227743
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000514863.17 | not provided | Conflicting-Interpretations-Of-Pathogenicity |
| RCV001081351.5 | Factor V deficiency | Benign |
Allele: T (allele ID:
15681
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000000675.6 | Ischemic stroke | Risk-Factor |
| RCV000000676.5 | Budd-Chiari syndrome, susceptibility to | Risk-Factor |
| RCV000023935.5 | Pregnancy loss, recurrent, susceptibility to, 1 | Risk-Factor |
| RCV000205002.18 | Factor V deficiency | Pathogenic,Risk-Factor |
| RCV000454249.9 | Thrombophilia due to activated protein C resistance | Pathogenic |
| RCV000616414.4 | not specified | Pathogenic |
| RCV001095681.2 | Factor V deficiency,Thrombophilia due to activated protein C resistance | Pathogenic |
| RCV001806997.2 | Susceptibility to severe coronavirus disease (COVID-19) due to an impaired coagulation process | Uncertain-Significance |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.169549811= | NC_000001.11:g.169549811C>A | NC_000001.11:g.169549811C>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.169519049T>C | NC_000001.10:g.169519049T>A | NC_000001.10:g.169519049= |
| F5 RefSeqGene (LRG_553) | NG_011806.1:g.41721= | NG_011806.1:g.41721G>T | NG_011806.1:g.41721G>A |
| F5 transcript | NM_000130.5:c.1601= | NM_000130.5:c.1601G>T | NM_000130.5:c.1601G>A |
| F5 transcript | NM_000130.4:c.1601= | NM_000130.4:c.1601G>T | NM_000130.4:c.1601G>A |
| coagulation factor V preproprotein | NP_000121.2:p.Arg534= | NP_000121.2:p.Arg534Leu | NP_000121.2:p.Arg534Gln |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
150 SubSNP,
7 Frequency,
10 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF-CSNP | ss7639 | Sep 19, 2000 (52) |
| 2 | TSC-CSHL | ss3388517 | Sep 28, 2001 (100) |
| 3 | WI_SSAHASNP | ss6408627 | Feb 20, 2003 (111) |
| 4 | PGA-UW-FHCRC | ss12674255 | Dec 05, 2003 (119) |
| 5 | WUGSC_SSAHASNP | ss14458528 | Dec 05, 2003 (119) |
| 6 | SC_SNP | ss15384064 | Feb 27, 2004 (120) |
| 7 | CSHL-HAPMAP | ss17374119 | Feb 27, 2004 (120) |
| 8 | SSAHASNP | ss20553759 | Apr 05, 2004 (121) |
| 9 | PERLEGEN | ss68784225 | May 17, 2007 (127) |
| 10 | ILLUMINA | ss74903136 | Dec 06, 2007 (129) |
| 11 | HGSV | ss77657762 | Dec 06, 2007 (129) |
| 12 | HGSV | ss80768688 | Dec 15, 2007 (130) |
| 13 | HGSV | ss84523906 | Dec 15, 2007 (130) |
| 14 | BCMHGSC_JDW | ss87863257 | Mar 23, 2008 (129) |
| 15 | HUMANGENOME_JCVI | ss97982940 | Feb 05, 2009 (130) |
| 16 | SNP500CANCER | ss105435572 | Feb 05, 2009 (130) |
| 17 | BGI | ss106609833 | Feb 05, 2009 (130) |
| 18 | 1000GENOMES | ss108686946 | Jan 23, 2009 (130) |
| 19 | 1000GENOMES | ss111314932 | Jan 25, 2009 (130) |
| 20 | ILLUMINA-UK | ss119081774 | Feb 15, 2009 (130) |
| 21 | ENSEMBL | ss131709017 | Dec 01, 2009 (131) |
| 22 | ENSEMBL | ss138101430 | Dec 01, 2009 (131) |
| 23 | GMI | ss155905226 | Dec 01, 2009 (131) |
| 24 | SEATTLESEQ | ss159699610 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss160758444 | Dec 01, 2009 (131) |
| 26 | COMPLETE_GENOMICS | ss164374094 | Jul 04, 2010 (132) |
| 27 | COMPLETE_GENOMICS | ss165406825 | Jul 04, 2010 (132) |
| 28 | COMPLETE_GENOMICS | ss167258185 | Jul 04, 2010 (132) |
| 29 | OMICIA | ss169613390 | Jan 25, 2013 (137) |
| 30 | ILLUMINA | ss173964819 | Jul 04, 2010 (132) |
| 31 | PAGE_STUDY | ss181341854 | Jul 04, 2010 (132) |
| 32 | BUSHMAN | ss199221578 | Jul 04, 2010 (132) |
| 33 | BCM-HGSC-SUB | ss205068124 | Jul 04, 2010 (132) |
| 34 | 1000GENOMES | ss218708130 | Jul 14, 2010 (132) |
| 35 | 1000GENOMES | ss230774116 | Jul 14, 2010 (132) |
| 36 | 1000GENOMES | ss238413632 | Jul 15, 2010 (132) |
| 37 | ILLUMINA | ss244304161 | Jul 04, 2010 (132) |
| 38 | OMIM-CURATED-RECORDS | ss252841304 | Aug 10, 2010 (132) |
| 39 | BL | ss253592200 | May 09, 2011 (134) |
| 40 | GMI | ss276094736 | May 04, 2012 (137) |
| 41 | GMI | ss284172225 | Apr 25, 2013 (138) |
| 42 | PJP | ss290659975 | May 09, 2011 (134) |
| 43 | NHLBI-ESP | ss342010061 | May 09, 2011 (134) |
| 44 | ILLUMINA | ss482137838 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss482205031 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss483027973 | May 04, 2012 (137) |
| 47 | 1000GENOMES | ss489776588 | May 04, 2012 (137) |
| 48 | EXOME_CHIP | ss491305652 | May 04, 2012 (137) |
| 49 | CLINSEQ_SNP | ss491609172 | May 04, 2012 (137) |
| 50 | ILLUMINA | ss535048159 | Sep 08, 2015 (146) |
| 51 | TISHKOFF | ss554827710 | Apr 25, 2013 (138) |
| 52 | SSMP | ss648487054 | Apr 25, 2013 (138) |
| 53 | ILLUMINA | ss780124263 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss781957563 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss835607295 | Sep 08, 2015 (146) |
| 56 | JMKIDD_LAB | ss974438194 | Aug 21, 2014 (142) |
| 57 | EVA-GONL | ss975794409 | Aug 21, 2014 (142) |
| 58 | JMKIDD_LAB | ss1067428640 | Aug 21, 2014 (142) |
| 59 | JMKIDD_LAB | ss1068350648 | Aug 21, 2014 (142) |
| 60 | 1000GENOMES | ss1293348588 | Aug 21, 2014 (142) |
| 61 | HAMMER_LAB | ss1397263621 | Sep 08, 2015 (146) |
| 62 | DDI | ss1426011906 | Apr 01, 2015 (144) |
| 63 | EVA_GENOME_DK | ss1574463850 | Apr 01, 2015 (144) |
| 64 | EVA_FINRISK | ss1584012785 | Apr 01, 2015 (144) |
| 65 | EVA_DECODE | ss1585179911 | Apr 01, 2015 (144) |
| 66 | EVA_UK10K_ALSPAC | ss1601439505 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_TWINSUK | ss1644433538 | Apr 01, 2015 (144) |
| 68 | EVA_EXAC | ss1685903694 | Apr 01, 2015 (144) |
| 69 | EVA_MGP | ss1710931971 | Apr 01, 2015 (144) |
| 70 | EVA_SVP | ss1712380140 | Apr 01, 2015 (144) |
| 71 | HAMMER_LAB | ss1795244562 | Sep 08, 2015 (146) |
| 72 | WEILL_CORNELL_DGM | ss1919031046 | Feb 12, 2016 (147) |
| 73 | ILLUMINA | ss1958330594 | Feb 12, 2016 (147) |
| 74 | GENOMED | ss1966894266 | Jul 19, 2016 (147) |
| 75 | JJLAB | ss2020031327 | Sep 14, 2016 (149) |
| 76 | ILLUMINA | ss2094785025 | Dec 20, 2016 (150) |
| 77 | ILLUMINA | ss2094982019 | Dec 20, 2016 (150) |
| 78 | USC_VALOUEV | ss2148058720 | Dec 20, 2016 (150) |
| 79 | HUMAN_LONGEVITY | ss2167388222 | Dec 20, 2016 (150) |
| 80 | SYSTEMSBIOZJU | ss2624524921 | Nov 08, 2017 (151) |
| 81 | ILLUMINA | ss2632590763 | Nov 08, 2017 (151) |
| 82 | ILLUMINA | ss2632590764 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2632590765 | Nov 08, 2017 (151) |
| 84 | GRF | ss2698036876 | Nov 08, 2017 (151) |
| 85 | GNOMAD | ss2732042355 | Nov 08, 2017 (151) |
| 86 | GNOMAD | ss2746493956 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2762504184 | Nov 08, 2017 (151) |
| 88 | AFFY | ss2984884728 | Nov 08, 2017 (151) |
| 89 | AFFY | ss2985529897 | Nov 08, 2017 (151) |
| 90 | SWEGEN | ss2987924052 | Nov 08, 2017 (151) |
| 91 | ILLUMINA | ss3021149801 | Nov 08, 2017 (151) |
| 92 | CSHL | ss3343761112 | Nov 08, 2017 (151) |
| 93 | ILLUMINA | ss3625553663 | Oct 11, 2018 (152) |
| 94 | ILLUMINA | ss3626236235 | Oct 11, 2018 (152) |
| 95 | ILLUMINA | ss3630622670 | Oct 11, 2018 (152) |
| 96 | ILLUMINA | ss3636036300 | Oct 11, 2018 (152) |
| 97 | ILLUMINA | ss3637794640 | Oct 11, 2018 (152) |
| 98 | ILLUMINA | ss3641622946 | Oct 11, 2018 (152) |
| 99 | ILLUMINA | ss3642803170 | Oct 11, 2018 (152) |
| 100 | OMUKHERJEE_ADBS | ss3646248642 | Oct 11, 2018 (152) |
| 101 | ILLUMINA | ss3651486543 | Oct 11, 2018 (152) |
| 102 | ILLUMINA | ss3651486544 | Oct 11, 2018 (152) |
| 103 | ILLUMINA | ss3653654022 | Oct 11, 2018 (152) |
| 104 | EGCUT_WGS | ss3655867197 | Jul 12, 2019 (153) |
| 105 | EVA_DECODE | ss3687989788 | Jul 12, 2019 (153) |
| 106 | ILLUMINA | ss3725077992 | Jul 12, 2019 (153) |
| 107 | ACPOP | ss3727579298 | Jul 12, 2019 (153) |
| 108 | EVA | ss3746938022 | Jul 12, 2019 (153) |
| 109 | PAGE_CC | ss3770850803 | Jul 12, 2019 (153) |
| 110 | PACBIO | ss3783597415 | Jul 12, 2019 (153) |
| 111 | PACBIO | ss3789224010 | Jul 12, 2019 (153) |
| 112 | PACBIO | ss3794096072 | Jul 12, 2019 (153) |
| 113 | EVA | ss3823683669 | Apr 25, 2020 (154) |
| 114 | EVA | ss3825580202 | Apr 25, 2020 (154) |
| 115 | EVA | ss3826480620 | Apr 25, 2020 (154) |
| 116 | EVA | ss3836636456 | Apr 25, 2020 (154) |
| 117 | SGDP_PRJ | ss3850224915 | Apr 25, 2020 (154) |
| 118 | KRGDB | ss3895460800 | Apr 25, 2020 (154) |
| 119 | FSA-LAB | ss3983953191 | Apr 25, 2021 (155) |
| 120 | FSA-LAB | ss3983953192 | Apr 25, 2021 (155) |
| 121 | EVA | ss3984466849 | Apr 25, 2021 (155) |
| 122 | EVA | ss3984832818 | Apr 25, 2021 (155) |
| 123 | EVA | ss3986013958 | Apr 25, 2021 (155) |
| 124 | EVA | ss3986146521 | Apr 25, 2021 (155) |
| 125 | EVA | ss4016944578 | Apr 25, 2021 (155) |
| 126 | TOPMED | ss4471980427 | Apr 25, 2021 (155) |
| 127 | TOMMO_GENOMICS | ss5146959541 | Apr 25, 2021 (155) |
| 128 | EVA | ss5237633408 | Oct 12, 2022 (156) |
| 129 | 1000G_HIGH_COVERAGE | ss5244658671 | Oct 12, 2022 (156) |
| 130 | EVA | ss5314659755 | Oct 12, 2022 (156) |
| 131 | EVA | ss5322718682 | Oct 12, 2022 (156) |
| 132 | HUGCELL_USP | ss5445207742 | Oct 12, 2022 (156) |
| 133 | EVA | ss5512473836 | Oct 12, 2022 (156) |
| 134 | 1000G_HIGH_COVERAGE | ss5518170280 | Oct 12, 2022 (156) |
| 135 | EVA | ss5623917242 | Oct 12, 2022 (156) |
| 136 | EVA | ss5623999742 | Oct 12, 2022 (156) |
| 137 | SANFORD_IMAGENETICS | ss5624221332 | Oct 12, 2022 (156) |
| 138 | SANFORD_IMAGENETICS | ss5626802100 | Oct 12, 2022 (156) |
| 139 | EVA | ss5800047216 | Oct 12, 2022 (156) |
| 140 | EVA | ss5800087238 | Oct 12, 2022 (156) |
| 141 | EVA | ss5832811813 | Oct 12, 2022 (156) |
| 142 | EVA | ss5847169028 | Oct 12, 2022 (156) |
| 143 | EVA | ss5847562184 | Oct 12, 2022 (156) |
| 144 | EVA | ss5848277537 | Oct 12, 2022 (156) |
| 145 | EVA | ss5910665153 | Oct 12, 2022 (156) |
| 146 | EVA | ss5936512939 | Oct 12, 2022 (156) |
| 147 | EVA | ss5938603862 | Oct 12, 2022 (156) |
| 148 | EVA | ss5979294376 | Oct 12, 2022 (156) |
| 149 | EVA | ss5979997095 | Oct 12, 2022 (156) |
| 150 | EVA | ss5981198647 | Oct 12, 2022 (156) |
| 151 | 1000Genomes_30x | NC_000001.11 - 169549811 | Oct 12, 2022 (156) |
| 152 | gnomAD - Genomes | NC_000001.11 - 169549811 | Apr 25, 2021 (155) |
| 153 | HapMap | NC_000001.11 - 169549811 | Apr 25, 2020 (154) |
| 154 | KOREAN population from KRGDB | NC_000001.10 - 169519049 | Apr 25, 2020 (154) |
| 155 | The PAGE Study | NC_000001.11 - 169549811 | Jul 12, 2019 (153) |
| 156 | TopMed | NC_000001.11 - 169549811 | Apr 25, 2021 (155) |
| 157 | ALFA | NC_000001.11 - 169549811 | Apr 25, 2021 (155) |
| 158 | ClinVar | RCV000000675.6 | Oct 12, 2022 (156) |
| 159 | ClinVar | RCV000000676.5 | Oct 12, 2022 (156) |
| 160 | ClinVar | RCV000023935.5 | Oct 12, 2022 (156) |
| 161 | ClinVar | RCV000205002.18 | Oct 12, 2022 (156) |
| 162 | ClinVar | RCV000454249.9 | Oct 12, 2022 (156) |
| 163 | ClinVar | RCV000514863.17 | Oct 12, 2022 (156) |
| 164 | ClinVar | RCV000616414.4 | Oct 12, 2022 (156) |
| 165 | ClinVar | RCV001081351.5 | Oct 12, 2022 (156) |
| 166 | ClinVar | RCV001095681.2 | Oct 12, 2022 (156) |
| 167 | ClinVar | RCV001806997.2 | Oct 12, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs1801711 | Jan 04, 2002 (102) |
| rs60031897 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 2638194, ss3895460800 | NC_000001.10:169519048:T:A | NC_000001.11:169549810:C:A | (self) |
| ss77657762, ss80768688, ss84523906 | NC_000001.8:166250706:T:T | NC_000001.11:169549810:C:T | (self) |
| ss87863257, ss108686946, ss111314932, ss119081774, ss164374094, ss165406825, ss167258185, ss199221578, ss205068124, ss253592200, ss276094736, ss284172225, ss290659975, ss482137838, ss491609172, ss1397263621, ss1585179911, ss1712380140, ss3642803170 | NC_000001.9:167785672:T:T | NC_000001.11:169549810:C:T | (self) |
| 2638194, ss218708130, ss230774116, ss238413632, ss342010061, ss482205031, ss483027973, ss489776588, ss491305652, ss535048159, ss554827710, ss648487054, ss780124263, ss781957563, ss835607295, ss974438194, ss975794409, ss1067428640, ss1068350648, ss1293348588, ss1426011906, ss1574463850, ss1584012785, ss1601439505, ss1644433538, ss1685903694, ss1710931971, ss1795244562, ss1919031046, ss1958330594, ss1966894266, ss2020031327, ss2094785025, ss2094982019, ss2148058720, ss2624524921, ss2632590763, ss2632590764, ss2632590765, ss2698036876, ss2732042355, ss2746493956, ss2762504184, ss2984884728, ss2985529897, ss2987924052, ss3021149801, ss3343761112, ss3625553663, ss3626236235, ss3630622670, ss3636036300, ss3637794640, ss3641622946, ss3646248642, ss3651486543, ss3651486544, ss3653654022, ss3655867197, ss3727579298, ss3746938022, ss3783597415, ss3789224010, ss3794096072, ss3823683669, ss3825580202, ss3826480620, ss3836636456, ss3850224915, ss3895460800, ss3983953191, ss3983953192, ss3984466849, ss3984832818, ss3986013958, ss3986146521, ss4016944578, ss5146959541, ss5314659755, ss5322718682, ss5512473836, ss5623917242, ss5623999742, ss5624221332, ss5626802100, ss5800047216, ss5800087238, ss5832811813, ss5847169028, ss5847562184, ss5848277537, ss5936512939, ss5938603862, ss5979294376, ss5979997095, ss5981198647 | NC_000001.10:169519048:T:T | NC_000001.11:169549810:C:T | (self) |
| RCV000000675.6, RCV000000676.5, RCV000023935.5, RCV000205002.18, RCV000454249.9, RCV000616414.4, RCV001095681.2, RCV001806997.2, 5696215, 30071582, 199789, 72272, 35586762, 1793490053, ss169613390, ss252841304, ss2167388222, ss3687989788, ss3725077992, ss3770850803, ss4471980427, ss5237633408, ss5244658671, ss5445207742, ss5518170280, ss5910665153 | NC_000001.11:169549810:C:T | NC_000001.11:169549810:C:T | (self) |
| ss7639, ss3388517, ss6408627, ss12674255, ss68784225, ss74903136, ss97982940, ss105435572, ss106609833, ss131709017, ss138101430, ss155905226, ss159699610, ss160758444, ss173964819, ss181341854, ss244304161 | NT_004487.19:21007690:T:T | NC_000001.11:169549810:C:T | (self) |
| ss14458528, ss15384064, ss17374119, ss20553759 | NT_004668.16:8024520:T:T | NC_000001.11:169549810:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
184
citations for rs6025
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 7586244 | Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. | Ridker PM et al. | 1995 | Circulation |
| 7803250 | High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. | Beauchamp NJ et al. | 1994 | British journal of haematology |
| 7877648 | Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. | Ridker PM et al. | 1995 | The New England journal of medicine |
| 7910348 | Activated protein C resistance caused by Arg506Gln mutation in factor Va. | Greengard JS et al. | 1994 | Lancet (London, England) |
| 7911872 | Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. | Voorberg J et al. | 1994 | Lancet (London, England) |
| 7968118 | Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. | Vandenbroucke JP et al. | 1994 | Lancet (London, England) |
| 8049422 | Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. | Koeleman BP et al. | 1994 | Blood |
| 8164730 | Human genetics. Bad blood by mutation. | Majerus PW et al. | 1994 | Nature |
| 8164741 | Mutation in blood coagulation factor V associated with resistance to activated protein C. | Bertina RM et al. | 1994 | Nature |
| 8566967 | Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. | Braun A et al. | 1996 | Human genetics |
| 8616100 | HELLP syndrome associated with factor V R506Q mutation. | Brenner B et al. | 1996 | British journal of haematology |
| 8822583 | Inherited prethrombotic disorders and infectious purpura. | Westendorp RG et al. | 1996 | Thrombosis and haemostasis |
| 9245936 | Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. | Mahmoud AE et al. | 1997 | Gut |
| 9339109 | The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. | Gürgey A et al. | 1997 | The Turkish journal of pediatrics |
| 9372726 | Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. | Talmon T et al. | 1997 | American journal of ophthalmology |
| 9415695 | Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. | Gregg JP et al. | 1997 | American journal of medical genetics |
| 9454741 | A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. | Chan WP et al. | 1998 | Blood |
| 9459326 | Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. | Lindqvist PG et al. | 1998 | Thrombosis and haemostasis |
| 9518910 | Case-control study of risk of cerebral sinus thrombosis in oral contraceptive users and in [correction of who are] carriers of hereditary prothrombotic conditions. The Cerebral Venous Sinus Thrombosis Study Group. | de Bruijn SF et al. | 1998 | BMJ (Clinical research ed.) |
| 9734642 | Budd-Chiari syndrome, portal vein and mesenteric vein thrombosis in a patient homozygous for factor V Leiden mutation treated by TIPS and thrombolysis. | Leebeek FW et al. | 1998 | British journal of haematology |
| 10328130 | Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. | Gürakan F et al. | 1999 | Journal of pediatric gastroenterology and nutrition |
| 10348711 | Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. | Meyer M et al. | 1999 | Thrombosis and haemostasis |
| 10477778 | The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. | De Stefano V et al. | 1999 | The New England journal of medicine |
| 10494770 | Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. | Zehnder JL et al. | 1999 | Thrombosis and haemostasis |
| 10507841 | Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. | Mainardi JR et al. | 1999 | Blood |
| 10666427 | Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. | Gerhardt A et al. | 2000 | The New England journal of medicine |
| 11018168 | Mutations in coagulation factors in women with unexplained late fetal loss. | Martinelli I et al. | 2000 | The New England journal of medicine |
| 11583312 | Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. | Emmerich J et al. | 2001 | Thrombosis and haemostasis |
| 11686338 | Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? | Lindqvist PG et al. | 2001 | Thrombosis and haemostasis |
| 12069454 | Venous thromboembolism in young women; role of thrombophilic mutations and oral contraceptive use. | Legnani C et al. | 2002 | European heart journal |
| 14996674 | Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. | Juul K et al. | 2004 | Annals of internal medicine |
| 15208046 | Venous thromboembolic disease in users of low-estrogen combined estrogen-progestin oral contraceptives. | Sidney S et al. | 2004 | Contraception |
| 15534175 | Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. | Casas JP et al. | 2004 | Archives of neurology |
| 15638861 | R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. | Kemkes-Matthes B et al. | 2005 | British journal of haematology |
| 15946211 | Prothrombotic conditions, oral contraceptives, and the risk of ischemic stroke. | Slooter AJ et al. | 2005 | Journal of thrombosis and haemostasis |
| 16493002 | Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. | Zivelin A et al. | 2006 | Blood |
| 16769590 | Oral contraceptive use, thrombophilia and their interaction in young women with ischemic stroke. | Martinelli I et al. | 2006 | Haematologica |
| 16846490 | Lemierre's syndrome and genetic polymorphisms: a case report. | Constantin JM et al. | 2006 | BMC infectious diseases |
| 17048007 | Association of warfarin dose with genes involved in its action and metabolism. | Wadelius M et al. | 2007 | Human genetics |
| 17107626 | Comparison of PrASE and Pyrosequencing for SNP Genotyping. | Käller M et al. | 2006 | BMC genomics |
| 17677000 | Combined effects of thrombosis pathway gene variants predict cardiovascular events. | Auro K et al. | 2007 | PLoS genetics |
| 18513389 | New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. | Penco S et al. | 2008 | BMC bioinformatics |
| 18752569 | Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis. | Dudding T et al. | 2008 | Journal of thrombosis and haemostasis |
| 18805967 | Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping. | Johnson DC et al. | 2008 | Blood |
| 18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
| 19131662 | A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. | Wang X et al. | 2009 | Stroke |
| 19263529 | Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. | Zee RY et al. | 2009 | Clinica chimica acta; international journal of clinical chemistry |
| 19330901 | Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. | Conen D et al. | 2009 | Journal of hypertension |
| 19415820 | The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study. | Maitland-van der Zee AH et al. | 2009 | Pharmacogenetics and genomics |
| 19536175 | Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. | Ehret GB et al. | 2009 | European journal of human genetics |
| 19538716 | Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores). | Branco CC et al. | 2009 | Thrombosis journal |
| 19559392 | A candidate gene association study of 77 polymorphisms in migraine. | Schürks M et al. | 2009 | The journal of pain |
| 19591822 | Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services. | Dissanayake VH et al. | 2009 | Experimental and molecular pathology |
| 19682239 | Replication of findings on the association of genetic variation in 24 hemostasis genes and risk of incident venous thrombosis. | Smith NL et al. | 2009 | Journal of thrombosis and haemostasis |
| 19786296 | Platelet glycoprotein GP VI 13254C allele is an independent risk factor of premature myocardial infarction. | Motovska Z et al. | 2010 | Thrombosis research |
| 20031567 | An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study. | Zee RY et al. | 2009 | Circulation. Cardiovascular genetics |
| 20352152 | Association of common genetic variations and idiopathic venous thromboembolism. Results from EDITh, a hospital-based case-control study. | Delluc A et al. | 2010 | Thrombosis and haemostasis |
| 20417488 | Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years. | Clark EA et al. | 2010 | American journal of obstetrics and gynecology |
| 20556870 | CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. | Johnson AD et al. | 2010 | Genetics in medicine |
| 21054877 | Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. | Ned RM et al. | 2010 | BMC medical genetics |
| 21116184 | Factor V Leiden thrombophilia. | Kujovich JL et al. | 2011 | Genetics in medicine |
| 21121051 | The reference human genome demonstrates high risk of type 1 diabetes and other disorders. | Chen R et al. | 2011 | Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing |
| 21163921 | Genetic variation associated with plasma von Willebrand factor levels and the risk of incident venous thrombosis. | Smith NL et al. | 2011 | Blood |
| 21291465 | The association of genetic polymorphisms with cerebral palsy: a meta-analysis. | Wu D et al. | 2011 | Developmental medicine and child neurology |
| 21332313 | Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion. | Satra M et al. | 2011 | Pharmacogenomics |
| 21422408 | Clotting factor gene polymorphisms and colorectal cancer risk. | Vossen CY et al. | 2011 | Journal of clinical oncology |
| 21463476 | Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innate immunity pathways as risk factors for venous thromboembolism. | Heit JA et al. | 2011 | Journal of thrombosis and haemostasis |
| 21502573 | Genetic predictors of fibrin D-dimer levels in healthy adults. | Smith NL et al. | 2011 | Circulation |
| 21564075 | Resistance to activated protein C is a risk factor for pregnancy-related venous thrombosis in the absence of the F5 rs6025 (factor V Leiden) polymorphism. | Bergrem A et al. | 2011 | British journal of haematology |
| 21659962 | Replication of genetic associations in the inflammation, complement, and coagulation pathways with intraventricular hemorrhage in LBW preterm neonates. | Ryckman KK et al. | 2011 | Pediatric research |
| 21857382 | Candidate genes and risk for CP: a population-based study. | Wu YW et al. | 2011 | Pediatric research |
| 21894447 | Are centenarians genetically predisposed to lower disease risk? | Ruiz JR et al. | 2012 | Age (Dordrecht, Netherlands) |
| 21919968 | Validation of genetic variants associated with early acute rejection in kidney allograft transplantation. | Oetting WS et al. | 2012 | Clinical transplantation |
| 21935354 | Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. | Dewey FE et al. | 2011 | PLoS genetics |
| 21955043 | Validation of single nucleotide polymorphisms associated with acute rejection in kidney transplant recipients using a large multi-center cohort. | Oetting WS et al. | 2011 | Transplant international |
| 22273812 | Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey. | Jeff JM et al. | 2012 | Thrombosis and haemostasis |
| 22295056 | Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma. | Christie JD et al. | 2012 | PloS one |
| 22353194 | Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. | Lotta LA et al. | 2012 | BMC medical genomics |
| 22388798 | Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study. | Lynch AI et al. | 2012 | Pharmacogenetics and genomics |
| 22403240 | Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study. | Carty CL et al. | 2012 | Circulation. Cardiovascular genetics |
| 22421107 | The G534E-polymorphism of the gene encoding the factor VII-activating protease is a risk factor for venous thrombosis and recurrent events. | Ahmad-Nejad P et al. | 2012 | Thrombosis research |
| 22540831 | Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women. | Dissanayake VH et al. | 2012 | The journal of obstetrics and gynaecology research |
| 22707612 | Genetic risk factors for thrombosis in systemic lupus erythematosus. | Kaiser R et al. | 2012 | The Journal of rheumatology |
| 22879966 | Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. | Verschuren JJ et al. | 2012 | PloS one |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23016735 | Personalized approach of medication by indirect anticoagulants tailored to the patient-Russian context: what are the prospects? | Belozerceva LA et al. | 2012 | The EPMA journal |
| 23018527 | Necessity and risks of arterial blood sampling in healthy volunteer studies. | Oertel BG et al. | 2012 | Clinical pharmacokinetics |
| 23132613 | Genetic association studies in pre-eclampsia: systematic meta-analyses and field synopsis. | Staines-Urias E et al. | 2012 | International journal of epidemiology |
| 23150947 | Single nucleotide polymorphisms and the risk of venous thrombosis: results from a Danish case-cohort study. | El-Galaly TC et al. | 2013 | British journal of haematology |
| 23274712 | Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age. | Sakowicz A et al. | 2013 | Biochemical genetics |
| 23533563 | Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study. | Bérard AM et al. | 2013 | PloS one |
| 23650146 | A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. | Tang W et al. | 2013 | Genetic epidemiology |
| 23776350 | Gene polymorphisms in association with self-reported stroke in US adults. | Fan AZ et al. | 2010 | The application of clinical genetics |
| 23820649 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | 2013 | Human genetics |
| 23900608 | Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. | Simone B et al. | 2013 | European journal of epidemiology |
| 24270849 | Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. | Denny JC et al. | 2013 | Nature biotechnology |
| 24485400 | Influence of factor 5 rs6025 and factor 2 rs1799963 mutation on inhibitor development in patients with hemophilia A--an Israeli-German multicenter database study. | Kenet G et al. | 2014 | Thrombosis research |
| 24816905 | Single nucleotide variants in the protein C pathway and mortality in dialysis patients. | Ocak G et al. | 2014 | PloS one |
| 24908450 | A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups. | Weng LC et al. | 2014 | Thrombosis research |
| 25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
| 25272994 | Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study. | Klostermeier UC et al. | 2015 | Thrombosis and haemostasis |
| 25333069 | Disease variants in genomes of 44 centenarians. | Freudenberg-Hua Y et al. | 2014 | Molecular genetics & genomic medicine |
| 25341889 | Multilocus genetic risk scores for venous thromboembolism risk assessment. | Soria JM et al. | 2014 | Journal of the American Heart Association |
| 25361584 | Subgroups at high risk for ischaemic heart disease:identification and validation in 67 000 individuals from the general population. | Frikke-Schmidt R et al. | 2015 | International journal of epidemiology |
| 25474356 | Highly significant association between two common single nucleotide polymorphisms in CORIN gene and preeclampsia in Caucasian women. | Stepanian A et al. | 2014 | PloS one |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25897999 | Tobacco smoking strongly modifies the association of prothrombin G20210A with undetermined stroke: consecutive survivors and population-based controls. | Krajcoviechova A et al. | 2015 | Atherosclerosis |
| 25937265 | Protective effect of compression socks in a marathon runner with a genetic predisposition to thrombophilia due to Factor V Leiden. | Zaleski AL et al. | 2015 | The Physician and sportsmedicine |
| 26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
| 26261166 | A preliminary study of inherited thrombophilic risk factors in different clinical manifestations of venous thromboembolism in central Iran. | Karimi A et al. | 2015 | The Indian journal of medical research |
| 26423325 | F11 is associated with recurrent VTE in women. A prospective cohort study. | Bruzelius M et al. | 2016 | Thrombosis and haemostasis |
| 26592644 | Detection of human genome mutations associated with pregnancy complications using 3-D microarray based on macroporous polymer monoliths. | Glotov AS et al. | 2016 | Talanta |
| 26747084 | Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes. | Domitrz I et al. | 2016 | Human genomics |
| 26791477 | The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study. | Do AN et al. | 2016 | Journal of human hypertension |
| 26856649 | Nutritional habits, lifestyle, and genetic predisposition in cardiovascular and metabolic traits in Turkish population. | Karaca S et al. | 2016 | Nutrition (Burbank, Los Angeles County, Calif.) |
| 26888256 | Novel genetic predictors of venous thromboembolism risk in African Americans. | Hernandez W et al. | 2016 | Blood |
| 26970916 | Do incident and recurrent venous thromboembolism risks truly differ between heterozygous and homozygous Factor V Leiden carriers? A retrospective cohort study. | Perez Botero J et al. | 2016 | European journal of internal medicine |
| 26982741 | Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis. | Gorski MM et al. | 2016 | PloS one |
| 27018927 | Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort. | Aydin H et al. | 2016 | Ophthalmic genetics |
| 27156530 | Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility. | Ye BD et al. | 2016 | Expert review of clinical immunology |
| 27233255 | Association of gene polymorphisms of FV, FII, MTHFR, SERPINE1, CTLA4, IL10, and TNFalpha with pre-eclampsia in Chinese women. | Zhou L et al. | 2016 | Inflammation research |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 27277665 | Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. | Zholdybayeva EV et al. | 2016 | Human genomics |
| 27348238 | Association Between Gene Polymorphisms on Chromosome 1 and Susceptibility to Pre-Eclampsia: An Updated Meta-Analysis. | Zhang G et al. | 2016 | Medical science monitor |
| 27384325 | Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants. | Kaartokallio T et al. | 2016 | Scientific reports |
| 27589735 | A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification. | Ponasenko AV et al. | 2016 | International journal of molecular sciences |
| 27616475 | Gene variants as risk factors for gastroschisis. | Padula AM et al. | 2016 | American journal of medical genetics. Part A |
| 27636225 | An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. | Mnika K et al. | 2016 | Omics |
| 27716216 | The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. | Gerhard GS et al. | 2016 | BMC medical genomics |
| 27766050 | Causes of venous thrombosis. | Rosendaal FR et al. | 2016 | Thrombosis journal |
| 27976734 | The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease. | Martin-Fernandez L et al. | 2016 | Scientific reports |
| 28086795 | Atherosclerotic and thrombotic genetic and environmental determinants in Egyptian coronary artery disease patients: a pilot study. | Fawzy MS et al. | 2017 | BMC cardiovascular disorders |
| 28317214 | Characterization of blood flow through intrapulmonary arteriovenous anastomoses and patent foramen ovale at rest and during exercise in stroke and transient ischemic attack patients. | Romac R et al. | 2017 | Echocardiography (Mount Kisco, N.Y.) |
| 28345611 | Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families. | Kasak L et al. | 2017 | Scientific reports |
| 28544373 | Genetic markers for inherited thrombophilia are associated with fetal growth retardation in the population of Central Russia. | Reshetnikov E et al. | 2017 | The journal of obstetrics and gynaecology research |
| 28889200 | Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. | Abdi AA et al. | 2017 | Journal of thrombosis and thrombolysis |
| 29094466 | Joint effects of prothrombotic genotypes and body height on the risk of venous thromboembolism: the Tromsø study. | Horvei LD et al. | 2018 | Journal of thrombosis and haemostasis |
| 29190926 | Polymorphism of the ABO gene associate with thrombosis risk in patients with paroxysmal nocturnal hemoglobinuria. | Long Z et al. | 2017 | Oncotarget |
| 29334895 | Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data. | Koko M et al. | 2018 | BMC genomics |
| 29518638 | Thrombophilia testing in children: What and when should be tested? | Nowak-Göttl U et al. | 2018 | Thrombosis research |
| 29624150 | Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula. | LaHue SC et al. | 2019 | Journal of neurosurgery |
| 30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
| 30727925 | Relationship Between Single-Nucleotide Polymorphisms of Tumor Necrosis Factor Alpha, Interleukin-10, Factor II and Factor V with Risk of Inhibitor Development in Patients with Severe Hemophilia A. | Soori S et al. | 2019 | Cardiovascular & hematological disorders drug targets |
| 30773804 | Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke. The Tromsø Study. | Rinde LB et al. | 2019 | Journal of thrombosis and haemostasis |
| 30842582 | Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation. | Ibrahim-Kosta M et al. | 2019 | Scientific reports |
| 30858532 | Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy. | Nutile T et al. | 2019 | Scientific reports |
| 31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
| 31037802 | Association of hypertensive disorders of pregnancy risk and factor V Leiden mutation: A meta-analysis. | Li Y et al. | 2019 | The journal of obstetrics and gynaecology research |
| 31058051 | Recurrent Miscarriage and Implantation Failure of Unknown Cause Studied by a Panel of Thrombophilia Conditions: Increased Frequency of FXIII Val34Leu Polymorphism. | Diaz-Nuñez M et al. | 2019 | Journal of reproduction & infertility |
| 31101755 | Increased incidence of cancer in the follow-up of obstetric antiphospholipid syndrome within the NOH-APS cohort. | Gris JC et al. | 2020 | Haematologica |
| 31124268 | Impact of prothrombotic genotypes on the association between family history of myocardial infarction and venous thromboembolism. | Småbrekke B et al. | 2019 | Journal of thrombosis and haemostasis |
| 31134135 | Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms. | Kulminski AM et al. | 2019 | Frontiers in genetics |
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| 32342502 | The joint effect of genetic risk factors and different types of combined oral contraceptives on venous thrombosis risk. | Khialani D et al. | 2020 | British journal of haematology |
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| 33170161 | Genetic test for the prescription of diets in support of physical activity. | Naureen Z et al. | 2020 | Acta bio-medica |
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| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
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| 34087973 | Bosnian Study on Markers of Ischaemic Stroke in Adults 20-50 Years Old (SMISAO): Preliminary Report. | Mahmutbegovic N et al. | 2020 | Folia biologica |
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| 34765649 | The Higher Prevalence of Venous Thromboembolism in the Hungarian Roma Population Could Be Due to Elevated Genetic Risk and Stronger Gene-Environmental Interactions. | Natae SF et al. | 2021 | Frontiers in cardiovascular medicine |
| 34784644 | The Risk of Venous Thromboembolism Attributed to Established Prothrombotic Genotypes. | Evensen LH et al. | 2022 | Thrombosis and haemostasis |
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| 35346283 | Integrative analyses of genes related to femoral head osteonecrosis: an umbrella review of systematic reviews and meta-analyses of observational studies. | Lee S et al. | 2022 | Journal of orthopaedic surgery and research |
| 35453794 | SERPINE1 rs6092 Variant Is Related to Plasma Coagulation Proteins in Patients with Severe COVID-19 from a Tertiary Care Hospital. | Fricke-Galindo I et al. | 2022 | Biology |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.