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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs6054

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:154568456 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003944 (1159/293888, ALFA)
T=0.002482 (657/264690, TOPMED)
T=0.002352 (591/251290, GnomAD_exome) (+ 17 more)
T=0.002750 (385/140016, GnomAD)
T=0.002431 (295/121364, ExAC)
T=0.00103 (81/78702, PAGE_STUDY)
T=0.00142 (40/28258, 14KJPN)
T=0.00155 (26/16760, 8.3KJPN)
T=0.00315 (41/13006, GO-ESP)
T=0.0008 (5/6404, 1000G_30x)
T=0.0010 (5/5008, 1000G)
T=0.0002 (1/4480, Estonian)
T=0.0057 (22/3854, ALSPAC)
T=0.0067 (25/3708, TWINSUK)
T=0.0003 (1/2922, KOREAN)
T=0.007 (7/998, GoNL)
T=0.007 (4/600, NorthernSweden)
T=0.003 (1/326, HapMap)
T=0.003 (1/304, FINRISK)
T=0.00 (0/32, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGB : Missense Variant
Publications
3 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 310210 C=0.996132 T=0.003868 0.992289 2.6e-05 0.007685 1
European Sub 268662 C=0.995842 T=0.004158 0.991714 0.00003 0.008256 1
African Sub 13458 C=0.99911 T=0.00089 0.998217 0.0 0.001783 0
African Others Sub 484 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 12974 C=0.99908 T=0.00092 0.99815 0.0 0.00185 0
Asian Sub 3942 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 3154 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 788 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 1 Sub 1322 C=0.9970 T=0.0030 0.993949 0.0 0.006051 0
Latin American 2 Sub 2544 C=0.9996 T=0.0004 0.999214 0.0 0.000786 0
South Asian Sub 366 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Other Sub 19916 C=0.99669 T=0.00331 0.993372 0.0 0.006628 0


Help

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
Allele Frequency Aggregator Total Global 293888 C=0.996056 T=0.003944
Allele Frequency Aggregator European Sub 258608 C=0.995816 T=0.004184
Allele Frequency Aggregator Other Sub 18484 C=0.99665 T=0.00335
Allele Frequency Aggregator African Sub 8622 C=0.9988 T=0.0012
Allele Frequency Aggregator Asian Sub 3942 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2544 C=0.9996 T=0.0004
Allele Frequency Aggregator Latin American 1 Sub 1322 C=0.9970 T=0.0030
Allele Frequency Aggregator South Asian Sub 366 C=1.000 T=0.000
TopMed Global Study-wide 264690 C=0.997518 T=0.002482
gnomAD - Exomes Global Study-wide 251290 C=0.997648 T=0.002352
gnomAD - Exomes European Sub 135228 C=0.996229 T=0.003771
gnomAD - Exomes Asian Sub 49006 C=0.99908 T=0.00092
gnomAD - Exomes American Sub 34586 C=0.99960 T=0.00040
gnomAD - Exomes African Sub 16256 C=0.99926 T=0.00074
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6134 C=0.9984 T=0.0016
gnomAD - Genomes Global Study-wide 140016 C=0.997250 T=0.002750
gnomAD - Genomes European Sub 75864 C=0.99578 T=0.00422
gnomAD - Genomes African Sub 41942 C=0.99883 T=0.00117
gnomAD - Genomes American Sub 13612 C=0.99934 T=0.00066
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=0.9990 T=0.0010
gnomAD - Genomes Other Sub 2150 C=0.9981 T=0.0019
ExAC Global Study-wide 121364 C=0.997569 T=0.002431
ExAC Europe Sub 73326 C=0.99651 T=0.00349
ExAC Asian Sub 25156 C=0.99897 T=0.00103
ExAC American Sub 11568 C=0.99974 T=0.00026
ExAC African Sub 10406 C=0.99904 T=0.00096
ExAC Other Sub 908 C=1.000 T=0.000
The PAGE Study Global Study-wide 78702 C=0.99897 T=0.00103
The PAGE Study AfricanAmerican Sub 32516 C=0.99877 T=0.00123
The PAGE Study Mexican Sub 10810 C=0.99944 T=0.00056
The PAGE Study Asian Sub 8318 C=0.9993 T=0.0007
The PAGE Study PuertoRican Sub 7918 C=0.9990 T=0.0010
The PAGE Study NativeHawaiian Sub 4534 C=0.9991 T=0.0009
The PAGE Study Cuban Sub 4230 C=0.9993 T=0.0007
The PAGE Study Dominican Sub 3828 C=0.9982 T=0.0018
The PAGE Study CentralAmerican Sub 2450 C=0.9980 T=0.0020
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=0.9984 T=0.0016
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
14KJPN JAPANESE Study-wide 28258 C=0.99858 T=0.00142
8.3KJPN JAPANESE Study-wide 16760 C=0.99845 T=0.00155
GO Exome Sequencing Project Global Study-wide 13006 C=0.99685 T=0.00315
GO Exome Sequencing Project European American Sub 8600 C=0.9959 T=0.0041
GO Exome Sequencing Project African American Sub 4406 C=0.9986 T=0.0014
1000Genomes_30x Global Study-wide 6404 C=0.9992 T=0.0008
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9968 T=0.0032
1000Genomes_30x South Asian Sub 1202 C=0.9992 T=0.0008
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9990 T=0.0010
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9960 T=0.0040
1000Genomes South Asian Sub 978 C=0.999 T=0.001
1000Genomes American Sub 694 C=1.000 T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 T=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9943 T=0.0057
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9933 T=0.0067
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9997 T=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.993 T=0.007
Northern Sweden ACPOP Study-wide 600 C=0.993 T=0.007
HapMap Global Study-wide 326 C=0.997 T=0.003
HapMap American Sub 120 C=0.992 T=0.008
HapMap African Sub 118 C=1.000 T=0.000
HapMap Asian Sub 88 C=1.00 T=0.00
FINRISK Finnish from FINRISK project Study-wide 304 C=0.997 T=0.003
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 32 C=1.00 T=0.00
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 4 NC_000004.12:g.154568456C>T
GRCh37.p13 chr 4 NC_000004.11:g.155489608C>T
FGB RefSeqGene (LRG_558) NG_008833.1:g.10477C>T
Gene: FGB, fibrinogen beta chain (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FGB transcript variant 6 NM_001382762.1:c.745+49C>T N/A Intron Variant
FGB transcript variant 2 NM_001184741.1:c.617C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 2 preproprotein NP_001171670.1:p.Pro206Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 1 NM_005141.5:c.794C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 1 preproprotein NP_005132.2:p.Pro265Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 9 NM_001382765.1:c.794C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 9 preproprotein NP_001369694.1:p.Pro265Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 5 NM_001382761.1:c.794C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 5 preproprotein NP_001369690.1:p.Pro265Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 3 NM_001382759.1:c.662C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 3 preproprotein NP_001369688.1:p.Pro221Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 4 NM_001382760.1:c.794C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 4 preproprotein NP_001369689.1:p.Pro265Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 7 NM_001382763.1:c.794C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 7 preproprotein NP_001369692.1:p.Pro265Leu P (Pro) > L (Leu) Missense Variant
FGB transcript variant 8 NM_001382764.1:c.794C>T P [CCG] > L [CTG] Coding Sequence Variant
fibrinogen beta chain isoform 8 preproprotein NP_001369693.1:p.Pro265Leu P (Pro) > L (Leu) 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: T (allele ID: 496315 )
ClinVar Accession Disease Names Clinical Significance
RCV000606613.3 not specified Uncertain-Significance
RCV000660563.5 Congenital afibrinogenemia Conflicting-Interpretations-Of-Pathogenicity
RCV000851887.1 Hypofibrinogenemia Uncertain-Significance
RCV000851949.1 Abnormal bleeding Likely-Pathogenic
RCV000861598.5 not provided Likely-Benign
RCV001270563.1 Abnormal bleeding,Thrombocytopenia Uncertain-Significance
RCV002245051.1 Afibrinogenemia 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= T
GRCh38.p14 chr 4 NC_000004.12:g.154568456= NC_000004.12:g.154568456C>T
GRCh37.p13 chr 4 NC_000004.11:g.155489608= NC_000004.11:g.155489608C>T
FGB RefSeqGene (LRG_558) NG_008833.1:g.10477= NG_008833.1:g.10477C>T
FGB transcript variant 1 NM_005141.5:c.794= NM_005141.5:c.794C>T
FGB transcript variant 1 NM_005141.4:c.794= NM_005141.4:c.794C>T
FGB transcript variant 7 NM_001382763.1:c.794= NM_001382763.1:c.794C>T
FGB transcript variant 9 NM_001382765.1:c.794= NM_001382765.1:c.794C>T
FGB transcript variant 5 NM_001382761.1:c.794= NM_001382761.1:c.794C>T
FGB transcript variant 3 NM_001382759.1:c.662= NM_001382759.1:c.662C>T
FGB transcript variant 8 NM_001382764.1:c.794= NM_001382764.1:c.794C>T
FGB transcript variant 2 NM_001184741.1:c.617= NM_001184741.1:c.617C>T
FGB transcript variant 4 NM_001382760.1:c.794= NM_001382760.1:c.794C>T
fibrinogen beta chain isoform 1 preproprotein NP_005132.2:p.Pro265= NP_005132.2:p.Pro265Leu
fibrinogen beta chain isoform 7 preproprotein NP_001369692.1:p.Pro265= NP_001369692.1:p.Pro265Leu
fibrinogen beta chain isoform 9 preproprotein NP_001369694.1:p.Pro265= NP_001369694.1:p.Pro265Leu
fibrinogen beta chain isoform 5 preproprotein NP_001369690.1:p.Pro265= NP_001369690.1:p.Pro265Leu
fibrinogen beta chain isoform 3 preproprotein NP_001369688.1:p.Pro221= NP_001369688.1:p.Pro221Leu
fibrinogen beta chain isoform 8 preproprotein NP_001369693.1:p.Pro265= NP_001369693.1:p.Pro265Leu
fibrinogen beta chain isoform 2 preproprotein NP_001171670.1:p.Pro206= NP_001171670.1:p.Pro206Leu
fibrinogen beta chain isoform 4 preproprotein NP_001369689.1:p.Pro265= NP_001369689.1:p.Pro265Leu
FGB transcript variant 6 NM_001382762.1:c.745+49= NM_001382762.1:c.745+49C>T
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#.

91 SubSNP, 20 Frequency, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7669 Sep 19, 2000 (52)
2 PGA-UW-FHCRC ss3171980 Aug 15, 2001 (104)
3 PERLEGEN ss68915284 May 17, 2007 (127)
4 AFFY ss74813981 Aug 16, 2007 (128)
5 UCSDPCCM ss120032888 Dec 01, 2009 (131)
6 ILLUMINA ss160761118 Dec 01, 2009 (131)
7 ILLUMINA ss173970938 Jul 04, 2010 (132)
8 1000GENOMES ss232665256 Jul 14, 2010 (132)
9 ILLUMINA ss244304265 Jul 04, 2010 (132)
10 NHLBI-ESP ss342173567 May 09, 2011 (134)
11 ILLUMINA ss481202752 May 04, 2012 (137)
12 ILLUMINA ss481225871 May 04, 2012 (137)
13 ILLUMINA ss482213102 Sep 08, 2015 (146)
14 ILLUMINA ss485396637 May 04, 2012 (137)
15 1000GENOMES ss490896316 May 04, 2012 (137)
16 EXOME_CHIP ss491361828 May 04, 2012 (137)
17 CLINSEQ_SNP ss491861190 May 04, 2012 (137)
18 ILLUMINA ss537334238 Sep 08, 2015 (146)
19 ILLUMINA ss778563861 Sep 08, 2015 (146)
20 ILLUMINA ss780833476 Sep 08, 2015 (146)
21 ILLUMINA ss783143831 Sep 08, 2015 (146)
22 ILLUMINA ss783516483 Sep 08, 2015 (146)
23 ILLUMINA ss784099976 Sep 08, 2015 (146)
24 ILLUMINA ss832402935 Sep 08, 2015 (146)
25 ILLUMINA ss834020804 Sep 08, 2015 (146)
26 EVA-GONL ss980859044 Aug 21, 2014 (142)
27 1000GENOMES ss1312501932 Aug 21, 2014 (142)
28 EVA_FINRISK ss1584036673 Apr 01, 2015 (144)
29 EVA_DECODE ss1590372894 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1611534796 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1654528829 Apr 01, 2015 (144)
32 EVA_EXAC ss1687671303 Apr 01, 2015 (144)
33 ILLUMINA ss1752504087 Sep 08, 2015 (146)
34 ILLUMINA ss1752504088 Sep 08, 2015 (146)
35 ILLUMINA ss1917785755 Feb 12, 2016 (147)
36 ILLUMINA ss1946130631 Feb 12, 2016 (147)
37 ILLUMINA ss1958731901 Feb 12, 2016 (147)
38 HUMAN_LONGEVITY ss2268556384 Dec 20, 2016 (150)
39 ILLUMINA ss2634196708 Nov 08, 2017 (151)
40 ILLUMINA ss2711019108 Nov 08, 2017 (151)
41 GNOMAD ss2734788175 Nov 08, 2017 (151)
42 GNOMAD ss2747318573 Nov 08, 2017 (151)
43 GNOMAD ss2817235145 Nov 08, 2017 (151)
44 SWEGEN ss2995832418 Nov 08, 2017 (151)
45 ILLUMINA ss3022428564 Nov 08, 2017 (151)
46 ILLUMINA ss3629098973 Oct 12, 2018 (152)
47 ILLUMINA ss3629098974 Oct 12, 2018 (152)
48 ILLUMINA ss3632128445 Oct 12, 2018 (152)
49 ILLUMINA ss3633353531 Oct 12, 2018 (152)
50 ILLUMINA ss3634073221 Oct 12, 2018 (152)
51 ILLUMINA ss3634976514 Oct 12, 2018 (152)
52 ILLUMINA ss3634976515 Oct 12, 2018 (152)
53 ILLUMINA ss3635755710 Oct 12, 2018 (152)
54 ILLUMINA ss3636683643 Oct 12, 2018 (152)
55 ILLUMINA ss3637508281 Oct 12, 2018 (152)
56 ILLUMINA ss3638520048 Oct 12, 2018 (152)
57 ILLUMINA ss3640683807 Oct 12, 2018 (152)
58 ILLUMINA ss3640683808 Oct 12, 2018 (152)
59 ILLUMINA ss3644863470 Oct 12, 2018 (152)
60 ILLUMINA ss3652919197 Oct 12, 2018 (152)
61 EGCUT_WGS ss3663742870 Jul 13, 2019 (153)
62 EVA_DECODE ss3713393372 Jul 13, 2019 (153)
63 ILLUMINA ss3726182856 Jul 13, 2019 (153)
64 ACPOP ss3731755674 Jul 13, 2019 (153)
65 ILLUMINA ss3744530976 Jul 13, 2019 (153)
66 ILLUMINA ss3745276739 Jul 13, 2019 (153)
67 ILLUMINA ss3745276740 Jul 13, 2019 (153)
68 PAGE_CC ss3771162772 Jul 13, 2019 (153)
69 ILLUMINA ss3772771173 Jul 13, 2019 (153)
70 ILLUMINA ss3772771174 Jul 13, 2019 (153)
71 EVA ss3824053277 Apr 26, 2020 (154)
72 EVA ss3825665913 Apr 26, 2020 (154)
73 KRGDB ss3906766913 Apr 26, 2020 (154)
74 EVA ss3985104330 Apr 26, 2021 (155)
75 EVA ss3986294708 Apr 26, 2021 (155)
76 EVA ss4017176158 Apr 26, 2021 (155)
77 TOPMED ss4638032998 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5168783245 Apr 26, 2021 (155)
79 EVA ss5237359497 Apr 26, 2021 (155)
80 1000G_HIGH_COVERAGE ss5261621290 Oct 13, 2022 (156)
81 EVA ss5315001700 Oct 13, 2022 (156)
82 HUGCELL_USP ss5460112163 Oct 13, 2022 (156)
83 1000G_HIGH_COVERAGE ss5544036407 Oct 13, 2022 (156)
84 SANFORD_IMAGENETICS ss5624571593 Oct 13, 2022 (156)
85 TOMMO_GENOMICS ss5703991376 Oct 13, 2022 (156)
86 EVA ss5844949203 Oct 13, 2022 (156)
87 EVA ss5848029602 Oct 13, 2022 (156)
88 EVA ss5848618589 Oct 13, 2022 (156)
89 EVA ss5866189647 Oct 13, 2022 (156)
90 EVA ss5964850017 Oct 13, 2022 (156)
91 EVA ss5979719263 Oct 13, 2022 (156)
92 1000Genomes NC_000004.11 - 155489608 Oct 12, 2018 (152)
93 1000Genomes_30x NC_000004.12 - 154568456 Oct 13, 2022 (156)
94 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 155489608 Oct 12, 2018 (152)
95 Genetic variation in the Estonian population NC_000004.11 - 155489608 Oct 12, 2018 (152)
96 ExAC NC_000004.11 - 155489608 Oct 12, 2018 (152)
97 FINRISK NC_000004.11 - 155489608 Apr 26, 2020 (154)
98 gnomAD - Genomes NC_000004.12 - 154568456 Apr 26, 2021 (155)
99 gnomAD - Exomes NC_000004.11 - 155489608 Jul 13, 2019 (153)
100 GO Exome Sequencing Project NC_000004.11 - 155489608 Oct 12, 2018 (152)
101 Genome of the Netherlands Release 5 NC_000004.11 - 155489608 Apr 26, 2020 (154)
102 HapMap NC_000004.12 - 154568456 Apr 26, 2020 (154)
103 KOREAN population from KRGDB NC_000004.11 - 155489608 Apr 26, 2020 (154)
104 Northern Sweden NC_000004.11 - 155489608 Jul 13, 2019 (153)
105 The PAGE Study NC_000004.12 - 154568456 Jul 13, 2019 (153)
106 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 155489608 Apr 26, 2021 (155)
107 8.3KJPN NC_000004.11 - 155489608 Apr 26, 2021 (155)
108 14KJPN NC_000004.12 - 154568456 Oct 13, 2022 (156)
109 TopMed NC_000004.12 - 154568456 Apr 26, 2021 (155)
110 UK 10K study - Twins NC_000004.11 - 155489608 Oct 12, 2018 (152)
111 ALFA NC_000004.12 - 154568456 Apr 26, 2021 (155)
112 ClinVar RCV000606613.3 Oct 13, 2022 (156)
113 ClinVar RCV000660563.5 Oct 13, 2022 (156)
114 ClinVar RCV000851887.1 Apr 26, 2020 (154)
115 ClinVar RCV000851949.1 Apr 26, 2020 (154)
116 ClinVar RCV000861598.5 Oct 13, 2022 (156)
117 ClinVar RCV001270563.1 Apr 26, 2021 (155)
118 ClinVar RCV002245051.1 Oct 13, 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)
rs2227436 Apr 11, 2002 (104)
rs52828882 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss481202752, ss491861190, ss1590372894 NC_000004.10:155709057:C:T NC_000004.12:154568455:C:T (self)
24002742, 13350139, 9481118, 7651073, 33134, 3900360, 511463, 5912393, 13944307, 5040539, 330257, 26752552, 13350139, ss232665256, ss342173567, ss481225871, ss482213102, ss485396637, ss490896316, ss491361828, ss537334238, ss778563861, ss780833476, ss783143831, ss783516483, ss784099976, ss832402935, ss834020804, ss980859044, ss1312501932, ss1584036673, ss1611534796, ss1654528829, ss1687671303, ss1752504087, ss1752504088, ss1917785755, ss1946130631, ss1958731901, ss2634196708, ss2711019108, ss2734788175, ss2747318573, ss2817235145, ss2995832418, ss3022428564, ss3629098973, ss3629098974, ss3632128445, ss3633353531, ss3634073221, ss3634976514, ss3634976515, ss3635755710, ss3636683643, ss3637508281, ss3638520048, ss3640683807, ss3640683808, ss3644863470, ss3652919197, ss3663742870, ss3731755674, ss3744530976, ss3745276739, ss3745276740, ss3772771173, ss3772771174, ss3824053277, ss3825665913, ss3906766913, ss3985104330, ss3986294708, ss4017176158, ss5168783245, ss5237359497, ss5315001700, ss5624571593, ss5844949203, ss5848029602, ss5848618589, ss5964850017, ss5979719263 NC_000004.11:155489607:C:T NC_000004.12:154568455:C:T (self)
RCV000606613.3, RCV000660563.5, RCV000851887.1, RCV000851949.1, RCV000861598.5, RCV001270563.1, RCV002245051.1, 31562342, 170023137, 2739113, 384241, 37828480, 475410554, 2493937248, ss2268556384, ss3713393372, ss3726182856, ss3771162772, ss4638032998, ss5261621290, ss5460112163, ss5544036407, ss5703991376, ss5866189647 NC_000004.12:154568455:C:T NC_000004.12:154568455:C:T (self)
ss7669, ss3171980, ss68915284, ss74813981, ss120032888, ss160761118, ss173970938, ss244304265 NT_016354.19:80037328:C:T NC_000004.12:154568455:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs6054
PMID Title Author Year Journal
20978265 Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). Wassel CL et al. 2011 Blood
26105150 Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Huffman JE et al. 2015 Blood
34977236 PTHR1 Genetic Polymorphisms Are Associated with Osteoporosis among Postmenopausal Arab Women. Abdi S et al. 2021 BioMed research international
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
Top▲ 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.

Software version is: 2.0.1.post825+45319f0