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.
rs1799990
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr20:4699605 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.336095 (88961/264690, TOPMED)G=0.309087 (77663/251266, GnomAD_exome)G=0.334561 (49689/148520, ALFA) (+ 23 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- PRNP : Missense Variant
- Publications
- 71 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 | 169744 | A=0.664748 | G=0.335252 | 0.443527 | 0.114031 | 0.442443 | 3 |
| European | Sub | 129640 | A=0.666430 | G=0.333570 | 0.444986 | 0.112126 | 0.442888 | 1 |
| African | Sub | 15604 | A=0.65675 | G=0.34325 | 0.431043 | 0.117534 | 0.451423 | 0 |
| African Others | Sub | 556 | A=0.656 | G=0.344 | 0.428058 | 0.115108 | 0.456835 | 0 |
| African American | Sub | 15048 | A=0.65677 | G=0.34323 | 0.431154 | 0.117624 | 0.451223 | 0 |
| Asian | Sub | 554 | A=0.964 | G=0.036 | 0.931408 | 0.00361 | 0.064982 | 1 |
| East Asian | Sub | 456 | A=0.974 | G=0.026 | 0.947368 | 0.0 | 0.052632 | 0 |
| Other Asian | Sub | 98 | A=0.92 | G=0.08 | 0.857143 | 0.020408 | 0.122449 | 1 |
| Latin American 1 | Sub | 964 | A=0.632 | G=0.368 | 0.400415 | 0.136929 | 0.462656 | 0 |
| Latin American 2 | Sub | 5056 | A=0.5912 | G=0.4088 | 0.350475 | 0.168117 | 0.481408 | 0 |
| South Asian | Sub | 186 | A=0.817 | G=0.183 | 0.677419 | 0.043011 | 0.27957 | 0 |
| Other | Sub | 17740 | A=0.67131 | G=0.32869 | 0.455017 | 0.112401 | 0.432582 | 2 |
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 | A=0.663905 | G=0.336095 |
| gnomAD - Exomes | Global | Study-wide | 251266 | A=0.690913 | G=0.309087 |
| gnomAD - Exomes | European | Sub | 135230 | A=0.667833 | G=0.332167 |
| gnomAD - Exomes | Asian | Sub | 49006 | A=0.83184 | G=0.16816 |
| gnomAD - Exomes | American | Sub | 34584 | A=0.58680 | G=0.41320 |
| gnomAD - Exomes | African | Sub | 16230 | A=0.65970 | G=0.34030 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10076 | A=0.72400 | G=0.27600 |
| gnomAD - Exomes | Other | Sub | 6140 | A=0.6891 | G=0.3109 |
| Allele Frequency Aggregator | Total | Global | 148520 | A=0.665439 | G=0.334561 |
| Allele Frequency Aggregator | European | Sub | 116610 | A=0.666864 | G=0.333136 |
| Allele Frequency Aggregator | Other | Sub | 15516 | A=0.67356 | G=0.32644 |
| Allele Frequency Aggregator | African | Sub | 9634 | A=0.6574 | G=0.3426 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5056 | A=0.5912 | G=0.4088 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 964 | A=0.632 | G=0.368 |
| Allele Frequency Aggregator | Asian | Sub | 554 | A=0.964 | G=0.036 |
| Allele Frequency Aggregator | South Asian | Sub | 186 | A=0.817 | G=0.183 |
| gnomAD - Genomes | Global | Study-wide | 139914 | A=0.664837 | G=0.335163 |
| gnomAD - Genomes | European | Sub | 75816 | A=0.66288 | G=0.33712 |
| gnomAD - Genomes | African | Sub | 41874 | A=0.66024 | G=0.33976 |
| gnomAD - Genomes | American | Sub | 13632 | A=0.60351 | G=0.39649 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.7268 | G=0.2732 |
| gnomAD - Genomes | East Asian | Sub | 3118 | A=0.9766 | G=0.0234 |
| gnomAD - Genomes | Other | Sub | 2150 | A=0.6642 | G=0.3358 |
| ExAC | Global | Study-wide | 121156 | A=0.692223 | G=0.307777 |
| ExAC | Europe | Sub | 73190 | A=0.66793 | G=0.33207 |
| ExAC | Asian | Sub | 25148 | A=0.82575 | G=0.17425 |
| ExAC | American | Sub | 11554 | A=0.58517 | G=0.41483 |
| ExAC | African | Sub | 10360 | A=0.65647 | G=0.34353 |
| ExAC | Other | Sub | 904 | A=0.722 | G=0.278 |
| The PAGE Study | Global | Study-wide | 78696 | A=0.68444 | G=0.31556 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | A=0.66145 | G=0.33855 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.61360 | G=0.38640 |
| The PAGE Study | Asian | Sub | 8318 | A=0.9590 | G=0.0410 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.6353 | G=0.3647 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.7660 | G=0.2340 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.6537 | G=0.3463 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.6573 | G=0.3427 |
| The PAGE Study | CentralAmerican | Sub | 2448 | A=0.5478 | G=0.4522 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.6014 | G=0.3986 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.6294 | G=0.3706 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.745 | G=0.255 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.96044 | G=0.03956 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.96062 | G=0.03938 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.7270 | G=0.2730 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.6445 | G=0.3555 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.6730 | G=0.3270 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.7720 | G=0.2280 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.9786 | G=0.0214 |
| 1000Genomes_30x | American | Sub | 980 | A=0.592 | G=0.408 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.7334 | G=0.2666 |
| 1000Genomes | African | Sub | 1322 | A=0.6475 | G=0.3525 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.9752 | G=0.0248 |
| 1000Genomes | Europe | Sub | 1006 | A=0.6750 | G=0.3250 |
| 1000Genomes | South Asian | Sub | 978 | A=0.760 | G=0.240 |
| 1000Genomes | American | Sub | 694 | A=0.594 | G=0.406 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.6788 | G=0.3212 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6474 | G=0.3526 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.6656 | G=0.3344 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | A=0.9733 | G=0.0267 |
| HapMap | Global | Study-wide | 1890 | A=0.7312 | G=0.2688 |
| HapMap | American | Sub | 770 | A=0.734 | G=0.266 |
| HapMap | African | Sub | 692 | A=0.671 | G=0.329 |
| HapMap | Asian | Sub | 254 | A=0.969 | G=0.031 |
| HapMap | Europe | Sub | 174 | A=0.615 | G=0.385 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | A=0.6873 | G=0.3127 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 624 | A=0.635 | G=0.365 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.646 | G=0.354 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.828 | G=0.172 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.731 | G=0.269 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.84 | G=0.16 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.75 | G=0.25 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.654 | G=0.346 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | A=0.972 | G=0.028 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.608 | G=0.392 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.680 | G=0.320 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.701 | G=0.299 |
| SGDP_PRJ | Global | Study-wide | 254 | A=0.378 | G=0.622 |
| Qatari | Global | Study-wide | 216 | A=0.662 | G=0.338 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 44 | A=0.82 | G=0.18 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.65 | G=0.35 |
| Siberian | Global | Study-wide | 34 | A=0.38 | G=0.62 |
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 20 | NC_000020.11:g.4699605A>G |
| GRCh37.p13 chr 20 | NC_000020.10:g.4680251A>G |
| PRNP RefSeqGene | NG_009087.1:g.18455A>G |
Gene: PRNP, prion protein
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PRNP transcript variant 2 | NM_001271561.3:c.*74= | N/A | 3 Prime UTR Variant |
| PRNP transcript variant 1 | NM_000311.5:c.385A>G | M [ATG] > V [GTG] | Coding Sequence Variant |
| major prion protein preproprotein Prp precursor | NP_000302.1:p.Met129Val | M (Met) > V (Val) | Missense Variant |
| PRNP transcript variant 4 | NM_001080122.3:c.385A>G | M [ATG] > V [GTG] | Coding Sequence Variant |
| major prion protein preproprotein Prp precursor | NP_001073591.1:p.Met129Val | M (Met) > V (Val) | Missense Variant |
| PRNP transcript variant 2 | NM_183079.4:c.385A>G | M [ATG] > V [GTG] | Coding Sequence Variant |
| major prion protein preproprotein Prp precursor | NP_898902.1:p.Met129Val | M (Met) > V (Val) | Missense Variant |
| PRNP transcript variant 5 | NM_001080123.3:c.385A>G | M [ATG] > V [GTG] | Coding Sequence Variant |
| major prion protein preproprotein Prp precursor | NP_001073592.1:p.Met129Val | M (Met) > V (Val) | Missense Variant |
| PRNP transcript variant 3 | NM_001080121.3:c.385A>G | M [ATG] > V [GTG] | Coding Sequence Variant |
| major prion protein preproprotein Prp precursor | NP_001073590.1:p.Met129Val | M (Met) > V (Val) | 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: G (allele ID:
28436
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000014331.16 | Prion disease, susceptibility to | Risk-Factor |
| RCV000014332.16 | Alzheimer disease, early-onset, susceptibility to | Risk-Factor |
| RCV000014333.16 | Aphasia, primary progressive, susceptibility to | Risk-Factor |
| RCV000014336.25 | Inherited Creutzfeldt-Jakob disease | Pathogenic |
| RCV000014337.26 | Fatal familial insomnia | Pathogenic |
| RCV000020244.6 | Inherited prion disease | Benign |
| RCV000118064.14 | not specified | Benign-Likely-Benign |
| RCV000990275.6 | Huntington disease-like 1 | Benign |
| RCV001262968.2 | Inherited Creutzfeldt-Jakob disease | Likely-Benign |
| RCV001723566.5 | not provided | Benign |
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 | A= | G |
|---|---|---|
| GRCh38.p14 chr 20 | NC_000020.11:g.4699605= | NC_000020.11:g.4699605A>G |
| GRCh37.p13 chr 20 | NC_000020.10:g.4680251= | NC_000020.10:g.4680251A>G |
| PRNP RefSeqGene | NG_009087.1:g.18455= | NG_009087.1:g.18455A>G |
| PRNP transcript variant 1 | NM_000311.5:c.385= | NM_000311.5:c.385A>G |
| PRNP transcript variant 1 | NM_000311.4:c.385= | NM_000311.4:c.385A>G |
| PRNP transcript variant 1 | NM_000311.3:c.385= | NM_000311.3:c.385A>G |
| PRNP transcript variant 2 | NM_183079.4:c.385= | NM_183079.4:c.385A>G |
| PRNP transcript variant 2 | NM_183079.3:c.385= | NM_183079.3:c.385A>G |
| PRNP transcript variant 2 | NM_183079.2:c.385= | NM_183079.2:c.385A>G |
| PRNP transcript variant 5 | NM_001080123.3:c.385= | NM_001080123.3:c.385A>G |
| PRNP transcript variant 5 | NM_001080123.2:c.385= | NM_001080123.2:c.385A>G |
| PRNP transcript variant 5 | NM_001080123.1:c.385= | NM_001080123.1:c.385A>G |
| PRNP transcript variant 2 | NM_001271561.3:c.*74= | NM_001271561.3:c.*74A>G |
| PRNP transcript variant 2 | NM_001271561.2:c.*74= | NM_001271561.2:c.*74A>G |
| PRNP transcript variant 6 | NM_001271561.1:c.*74= | NM_001271561.1:c.*74A>G |
| PRNP transcript variant 3 | NM_001080121.3:c.385= | NM_001080121.3:c.385A>G |
| PRNP transcript variant 3 | NM_001080121.2:c.385= | NM_001080121.2:c.385A>G |
| PRNP transcript variant 3 | NM_001080121.1:c.385= | NM_001080121.1:c.385A>G |
| PRNP transcript variant 4 | NM_001080122.3:c.385= | NM_001080122.3:c.385A>G |
| PRNP transcript variant 4 | NM_001080122.2:c.385= | NM_001080122.2:c.385A>G |
| PRNP transcript variant 4 | NM_001080122.1:c.385= | NM_001080122.1:c.385A>G |
| major prion protein preproprotein Prp precursor | NP_000302.1:p.Met129= | NP_000302.1:p.Met129Val |
| major prion protein preproprotein Prp precursor | NP_898902.1:p.Met129= | NP_898902.1:p.Met129Val |
| major prion protein preproprotein Prp precursor | NP_001073592.1:p.Met129= | NP_001073592.1:p.Met129Val |
| major prion protein preproprotein Prp precursor | NP_001073590.1:p.Met129= | NP_001073590.1:p.Met129Val |
| major prion protein preproprotein Prp precursor | NP_001073591.1:p.Met129= | NP_001073591.1:p.Met129Val |
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#.
144 SubSNP,
26 Frequency,
10 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2420046 | Nov 14, 2000 (89) |
| 2 | WI_SSAHASNP | ss12495190 | Jul 11, 2003 (116) |
| 3 | MGC_GENOME_DIFF | ss28505273 | Sep 24, 2004 (126) |
| 4 | MGC_GENOME_DIFF | ss28512950 | Sep 24, 2004 (126) |
| 5 | ABI | ss44197730 | Mar 10, 2006 (126) |
| 6 | ILLUMINA | ss65725862 | Oct 15, 2006 (127) |
| 7 | PERLEGEN | ss69234107 | May 17, 2007 (127) |
| 8 | AFFY | ss74806003 | Aug 16, 2007 (128) |
| 9 | ILLUMINA | ss74866749 | Dec 06, 2007 (129) |
| 10 | SI_EXO | ss76885314 | Dec 06, 2007 (129) |
| 11 | BCMHGSC_JDW | ss91622784 | Mar 24, 2008 (129) |
| 12 | HUMANGENOME_JCVI | ss96210496 | Feb 05, 2009 (130) |
| 13 | 1000GENOMES | ss111644912 | Jan 25, 2009 (130) |
| 14 | KRIBB_YJKIM | ss119403884 | Dec 01, 2009 (131) |
| 15 | ENSEMBL | ss133054174 | Dec 01, 2009 (131) |
| 16 | ENSEMBL | ss138202434 | Dec 01, 2009 (131) |
| 17 | SEATTLESEQ | ss159741813 | Dec 01, 2009 (131) |
| 18 | ILLUMINA | ss160462740 | Dec 01, 2009 (131) |
| 19 | OMICIA | ss169684802 | Aug 28, 2012 (137) |
| 20 | OMICIA | ss169685996 | Aug 28, 2012 (137) |
| 21 | ILLUMINA | ss172924362 | Jul 04, 2010 (132) |
| 22 | GENEREVIEWS | ss184955911 | Dec 29, 2009 (131) |
| 23 | BUSHMAN | ss203815722 | Jul 04, 2010 (132) |
| 24 | BCM-HGSC-SUB | ss208693672 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss228230849 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss237744875 | Jul 15, 2010 (132) |
| 27 | 1000GENOMES | ss243935136 | Jul 15, 2010 (132) |
| 28 | OMIM-CURATED-RECORDS | ss275516662 | Dec 02, 2010 (133) |
| 29 | GMI | ss283283355 | May 04, 2012 (137) |
| 30 | GMI | ss287415127 | Apr 25, 2013 (138) |
| 31 | PJP | ss292568543 | May 09, 2011 (134) |
| 32 | NHLBI-ESP | ss342515797 | May 09, 2011 (134) |
| 33 | ILLUMINA | ss410916044 | Sep 17, 2011 (135) |
| 34 | ILLUMINA | ss479613483 | May 04, 2012 (137) |
| 35 | ILLUMINA | ss481066752 | Sep 08, 2015 (146) |
| 36 | ILLUMINA | ss484200766 | May 04, 2012 (137) |
| 37 | 1000GENOMES | ss491171972 | May 04, 2012 (137) |
| 38 | EXOME_CHIP | ss491557729 | May 04, 2012 (137) |
| 39 | CLINSEQ_SNP | ss491805623 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss533133686 | Sep 08, 2015 (146) |
| 41 | TISHKOFF | ss566107295 | Apr 25, 2013 (138) |
| 42 | SSMP | ss661977944 | Apr 25, 2013 (138) |
| 43 | ILLUMINA | ss779619330 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss781025042 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss835091713 | Sep 08, 2015 (146) |
| 46 | EVA-GONL | ss994494129 | Aug 21, 2014 (142) |
| 47 | JMKIDD_LAB | ss1067596018 | Aug 21, 2014 (142) |
| 48 | JMKIDD_LAB | ss1082037172 | Aug 21, 2014 (142) |
| 49 | 1000GENOMES | ss1363901078 | Aug 21, 2014 (142) |
| 50 | HAMMER_LAB | ss1397762035 | Sep 08, 2015 (146) |
| 51 | DDI | ss1428982115 | Apr 01, 2015 (144) |
| 52 | EVA_GENOME_DK | ss1579418453 | Apr 01, 2015 (144) |
| 53 | EVA_FINRISK | ss1584121548 | Apr 01, 2015 (144) |
| 54 | EVA_UK10K_ALSPAC | ss1638322342 | Apr 01, 2015 (144) |
| 55 | EVA_UK10K_TWINSUK | ss1681316375 | Apr 01, 2015 (144) |
| 56 | EVA_EXAC | ss1693895175 | Apr 01, 2015 (144) |
| 57 | EVA_DECODE | ss1698549023 | Apr 01, 2015 (144) |
| 58 | EVA_MGP | ss1711532727 | Apr 01, 2015 (144) |
| 59 | EVA_SVP | ss1713675663 | Apr 01, 2015 (144) |
| 60 | HAMMER_LAB | ss1809402232 | Sep 08, 2015 (146) |
| 61 | WEILL_CORNELL_DGM | ss1938003726 | Feb 12, 2016 (147) |
| 62 | ILLUMINA | ss1946546073 | Feb 12, 2016 (147) |
| 63 | ILLUMINA | ss1959894801 | Feb 12, 2016 (147) |
| 64 | GENOMED | ss1969079802 | Jul 19, 2016 (147) |
| 65 | JJLAB | ss2029779340 | Sep 14, 2016 (149) |
| 66 | ILLUMINA | ss2094809448 | Dec 20, 2016 (150) |
| 67 | ILLUMINA | ss2095113053 | Dec 20, 2016 (150) |
| 68 | USC_VALOUEV | ss2158333726 | Dec 20, 2016 (150) |
| 69 | HUMAN_LONGEVITY | ss2240987882 | Dec 20, 2016 (150) |
| 70 | ILLUMINA | ss2633770872 | Nov 08, 2017 (151) |
| 71 | ILLUMINA | ss2633770873 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss2633770874 | Nov 08, 2017 (151) |
| 73 | GRF | ss2704005777 | Nov 08, 2017 (151) |
| 74 | GNOMAD | ss2744450946 | Nov 08, 2017 (151) |
| 75 | GNOMAD | ss2750334803 | Nov 08, 2017 (151) |
| 76 | GNOMAD | ss2964980403 | Nov 08, 2017 (151) |
| 77 | AFFY | ss2985208556 | Nov 08, 2017 (151) |
| 78 | AFFY | ss2985829116 | Nov 08, 2017 (151) |
| 79 | SWEGEN | ss3017801683 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss3022096932 | Nov 08, 2017 (151) |
| 81 | BIOINF_KMB_FNS_UNIBA | ss3028721899 | Nov 08, 2017 (151) |
| 82 | CSHL | ss3352398552 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss3625783166 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3628340531 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3631728946 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3636514158 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3638332054 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3642170374 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3643295788 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3644776400 | Oct 12, 2018 (152) |
| 91 | OMUKHERJEE_ADBS | ss3646545833 | Oct 12, 2018 (152) |
| 92 | URBANLAB | ss3650961405 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3652551113 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3653976810 | Oct 12, 2018 (152) |
| 95 | EGCUT_WGS | ss3684515598 | Jul 13, 2019 (153) |
| 96 | EVA_DECODE | ss3706476705 | Jul 13, 2019 (153) |
| 97 | ILLUMINA | ss3725896431 | Jul 13, 2019 (153) |
| 98 | ACPOP | ss3743211473 | Jul 13, 2019 (153) |
| 99 | ILLUMINA | ss3744194243 | Jul 13, 2019 (153) |
| 100 | ILLUMINA | ss3744490923 | Jul 13, 2019 (153) |
| 101 | EVA | ss3758370902 | Jul 13, 2019 (153) |
| 102 | PAGE_CC | ss3772033417 | Jul 13, 2019 (153) |
| 103 | PACBIO | ss3788587982 | Jul 13, 2019 (153) |
| 104 | PACBIO | ss3793490005 | Jul 13, 2019 (153) |
| 105 | PACBIO | ss3798377136 | Jul 13, 2019 (153) |
| 106 | KHV_HUMAN_GENOMES | ss3821542493 | Jul 13, 2019 (153) |
| 107 | EVA | ss3825349091 | Apr 27, 2020 (154) |
| 108 | EVA | ss3825948087 | Apr 27, 2020 (154) |
| 109 | EVA | ss3835564931 | Apr 27, 2020 (154) |
| 110 | EVA | ss3841406463 | Apr 27, 2020 (154) |
| 111 | EVA | ss3846913935 | Apr 27, 2020 (154) |
| 112 | SGDP_PRJ | ss3888644438 | Apr 27, 2020 (154) |
| 113 | KRGDB | ss3938829408 | Apr 27, 2020 (154) |
| 114 | FSA-LAB | ss3984211875 | Apr 26, 2021 (155) |
| 115 | EVA | ss3985864370 | Apr 26, 2021 (155) |
| 116 | EVA | ss3986822332 | Apr 26, 2021 (155) |
| 117 | EVA | ss4017835229 | Apr 26, 2021 (155) |
| 118 | TOPMED | ss5080869113 | Apr 26, 2021 (155) |
| 119 | TOMMO_GENOMICS | ss5228661918 | Apr 26, 2021 (155) |
| 120 | EVA | ss5236981528 | Apr 26, 2021 (155) |
| 121 | EVA | ss5237601192 | Apr 26, 2021 (155) |
| 122 | EVA | ss5237674030 | Oct 13, 2022 (156) |
| 123 | 1000G_HIGH_COVERAGE | ss5307942073 | Oct 13, 2022 (156) |
| 124 | TRAN_CS_UWATERLOO | ss5314454877 | Oct 13, 2022 (156) |
| 125 | EVA | ss5315990832 | Oct 13, 2022 (156) |
| 126 | EVA | ss5435997165 | Oct 13, 2022 (156) |
| 127 | HUGCELL_USP | ss5500355587 | Oct 13, 2022 (156) |
| 128 | 1000G_HIGH_COVERAGE | ss5613952333 | Oct 13, 2022 (156) |
| 129 | EVA | ss5624111505 | Oct 13, 2022 (156) |
| 130 | SANFORD_IMAGENETICS | ss5624479239 | Oct 13, 2022 (156) |
| 131 | SANFORD_IMAGENETICS | ss5662780804 | Oct 13, 2022 (156) |
| 132 | TOMMO_GENOMICS | ss5787600071 | Oct 13, 2022 (156) |
| 133 | EVA | ss5800074170 | Oct 13, 2022 (156) |
| 134 | EVA | ss5800228002 | Oct 13, 2022 (156) |
| 135 | YY_MCH | ss5817779958 | Oct 13, 2022 (156) |
| 136 | EVA | ss5845386433 | Oct 13, 2022 (156) |
| 137 | EVA | ss5847501403 | Oct 13, 2022 (156) |
| 138 | EVA | ss5847912885 | Oct 13, 2022 (156) |
| 139 | EVA | ss5848543196 | Oct 13, 2022 (156) |
| 140 | EVA | ss5853050036 | Oct 13, 2022 (156) |
| 141 | EVA | ss5922508678 | Oct 13, 2022 (156) |
| 142 | EVA | ss5936576428 | Oct 13, 2022 (156) |
| 143 | EVA | ss5957679208 | Oct 13, 2022 (156) |
| 144 | EVA | ss5979608687 | Oct 13, 2022 (156) |
| 145 | 1000Genomes | NC_000020.10 - 4680251 | Oct 12, 2018 (152) |
| 146 | 1000Genomes_30x | NC_000020.11 - 4699605 | Oct 13, 2022 (156) |
| 147 | The Avon Longitudinal Study of Parents and Children | NC_000020.10 - 4680251 | Oct 12, 2018 (152) |
| 148 | Genome-wide autozygosity in Daghestan | NC_000020.9 - 4628251 | Apr 27, 2020 (154) |
| 149 | Genetic variation in the Estonian population | NC_000020.10 - 4680251 | Oct 12, 2018 (152) |
| 150 | ExAC | NC_000020.10 - 4680251 | Oct 12, 2018 (152) |
| 151 | FINRISK | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 152 | The Danish reference pan genome | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 153 | gnomAD - Genomes | NC_000020.11 - 4699605 | Apr 26, 2021 (155) |
| 154 | gnomAD - Exomes | NC_000020.10 - 4680251 | Jul 13, 2019 (153) |
| 155 | Genome of the Netherlands Release 5 | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 156 | HapMap | NC_000020.11 - 4699605 | Apr 27, 2020 (154) |
| 157 | KOREAN population from KRGDB | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 158 | Medical Genome Project healthy controls from Spanish population | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 159 | Northern Sweden | NC_000020.10 - 4680251 | Jul 13, 2019 (153) |
| 160 | The PAGE Study | NC_000020.11 - 4699605 | Jul 13, 2019 (153) |
| 161 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000020.10 - 4680251 | Apr 26, 2021 (155) |
| 162 | Qatari | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 163 | SGDP_PRJ | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 164 | Siberian | NC_000020.10 - 4680251 | Apr 27, 2020 (154) |
| 165 | 8.3KJPN | NC_000020.10 - 4680251 | Apr 26, 2021 (155) |
| 166 | 14KJPN | NC_000020.11 - 4699605 | Oct 13, 2022 (156) |
| 167 | TopMed | NC_000020.11 - 4699605 | Apr 26, 2021 (155) |
| 168 | UK 10K study - Twins | NC_000020.10 - 4680251 | Oct 12, 2018 (152) |
| 169 | A Vietnamese Genetic Variation Database | NC_000020.10 - 4680251 | Jul 13, 2019 (153) |
| 170 | ALFA | NC_000020.11 - 4699605 | Apr 26, 2021 (155) |
| 171 | ClinVar | RCV000014331.16 | Oct 13, 2022 (156) |
| 172 | ClinVar | RCV000014332.16 | Oct 13, 2022 (156) |
| 173 | ClinVar | RCV000014333.16 | Oct 13, 2022 (156) |
| 174 | ClinVar | RCV000014336.25 | Oct 13, 2022 (156) |
| 175 | ClinVar | RCV000014337.26 | Oct 13, 2022 (156) |
| 176 | ClinVar | RCV000020244.6 | Oct 13, 2022 (156) |
| 177 | ClinVar | RCV000118064.14 | Oct 13, 2022 (156) |
| 178 | ClinVar | RCV000990275.6 | Oct 13, 2022 (156) |
| 179 | ClinVar | RCV001262968.2 | Oct 13, 2022 (156) |
| 180 | ClinVar | RCV001723566.5 | 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) |
|---|---|
| rs17850971 | Mar 10, 2006 (126) |
| rs17858648 | Mar 10, 2006 (126) |
| rs52800775 | Sep 21, 2007 (128) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 276235, ss91622784, ss111644912, ss203815722, ss208693672, ss283283355, ss287415127, ss292568543, ss484200766, ss491805623, ss1397762035, ss1698549023, ss1713675663, ss3643295788 | NC_000020.9:4628250:A:G | NC_000020.11:4699604:A:G | (self) |
| 77334737, 42806376, 30253846, 5442263, 118009, 5583392, 13768586, 19073327, 46006802, 648487, 16496338, 1090297, 20045648, 40661418, 10850080, 86631225, 42806376, 9449995, ss228230849, ss237744875, ss243935136, ss342515797, ss479613483, ss481066752, ss491171972, ss491557729, ss533133686, ss566107295, ss661977944, ss779619330, ss781025042, ss835091713, ss994494129, ss1067596018, ss1082037172, ss1363901078, ss1428982115, ss1579418453, ss1584121548, ss1638322342, ss1681316375, ss1693895175, ss1711532727, ss1809402232, ss1938003726, ss1946546073, ss1959894801, ss1969079802, ss2029779340, ss2094809448, ss2095113053, ss2158333726, ss2633770872, ss2633770873, ss2633770874, ss2704005777, ss2744450946, ss2750334803, ss2964980403, ss2985208556, ss2985829116, ss3017801683, ss3022096932, ss3352398552, ss3625783166, ss3628340531, ss3631728946, ss3636514158, ss3638332054, ss3642170374, ss3644776400, ss3646545833, ss3652551113, ss3653976810, ss3684515598, ss3743211473, ss3744194243, ss3744490923, ss3758370902, ss3788587982, ss3793490005, ss3798377136, ss3825349091, ss3825948087, ss3835564931, ss3841406463, ss3888644438, ss3938829408, ss3984211875, ss3985864370, ss3986822332, ss4017835229, ss5228661918, ss5237601192, ss5315990832, ss5435997165, ss5624111505, ss5624479239, ss5662780804, ss5800074170, ss5800228002, ss5845386433, ss5847501403, ss5847912885, ss5848543196, ss5936576428, ss5957679208, ss5979608687 | NC_000020.10:4680250:A:G | NC_000020.11:4699604:A:G | (self) |
| RCV000014331.16, RCV000014332.16, RCV000014333.16, RCV000014336.25, RCV000014337.26, RCV000020244.6, RCV000118064.14, RCV000990275.6, RCV001262968.2, RCV001723566.5, 101478268, 545333762, 2057265, 1254886, 121437175, 355978058, 9029556694, ss169684802, ss169685996, ss184955911, ss275516662, ss2240987882, ss3028721899, ss3650961405, ss3706476705, ss3725896431, ss3772033417, ss3821542493, ss3846913935, ss5080869113, ss5236981528, ss5237674030, ss5307942073, ss5314454877, ss5500355587, ss5613952333, ss5787600071, ss5817779958, ss5853050036, ss5922508678 | NC_000020.11:4699604:A:G | NC_000020.11:4699604:A:G | (self) |
| ss2420046, ss12495190, ss28505273, ss28512950, ss44197730, ss65725862, ss69234107, ss74806003, ss74866749, ss76885314, ss96210496, ss119403884, ss133054174, ss138202434, ss159741813, ss160462740, ss172924362, ss410916044 | NT_011387.8:4620250:A:G | NC_000020.11:4699604:A:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
71
citations for rs1799990
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 1353341 | Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin. | Goldfarb LG et al. | 1992 | Annals of neurology |
| 1353342 | Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation. | Brown P et al. | 1992 | Annals of neurology |
| 1469441 | Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. | Brown P et al. | 1992 | Journal of the neurological sciences |
| 1671440 | New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. | Goldfarb LG et al. | 1991 | Lancet (London, England) |
| 1671983 | Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families. | Nieto A et al. | 1991 | Lancet (London, England) |
| 1675319 | Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. | Collinge J et al. | 1991 | Lancet (London, England) |
| 1677164 | Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. | Palmer MS et al. | 1991 | Nature |
| 1682813 | CJD discrepancy. | Doh-ura K et al. | 1991 | Nature |
| 1684089 | Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. | Collinge J et al. | 1991 | American journal of human genetics |
| 1684756 | Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. | Haltia M et al. | 1991 | European journal of epidemiology |
| 1971924 | A codon 129 polymorphism in the PRIP gene. | Owen F et al. | 1990 | Nucleic acids research |
| 2378641 | Codon 129 changes in the prion protein gene in Caucasians. | Owen F et al. | 1990 | American journal of human genetics |
| 2783132 | Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome. | Doh-ura K et al. | 1989 | Biochemical and biophysical research communications |
| 7709737 | Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue. | Kretzschmar HA et al. | 1995 | Acta neuropathologica |
| 7845623 | Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease. | de Silva R et al. | 1994 | Neuroscience letters |
| 7908444 | Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. | Monari L et al. | 1994 | Proceedings of the National Academy of Sciences of the United States of America |
| 8137139 | Fatal familial insomnia and the widening spectrum of prion diseases. | Gambetti P et al. | 1993 | British medical bulletin |
| 9643750 | Genotype at codon 129 and susceptibility to Creutzfeldt-Jakob disease. | Deslys JP et al. | 1998 | Lancet (London, England) |
| 9748018 | Polymorphism of the prion protein is associated with cognitive impairment in the elderly: the EVA study. | Berr C et al. | 1998 | Neurology |
| 9751723 | Prion protein NMR structure and familial human spongiform encephalopathies. | Riek R et al. | 1998 | Proceedings of the National Academy of Sciences of the United States of America |
| 9789072 | Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease. | Cervenáková L et al. | 1998 | Proceedings of the National Academy of Sciences of the United States of America |
| 10437852 | The genetics of prions--a contradiction in terms? | Aguzzi A et al. | 1999 | Lancet (London, England) |
| 10581230 | Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. | Laplanche JL et al. | 1999 | Brain |
| 10953203 | Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD. | Combarros O et al. | 2000 | Neurology |
| 11488277 | Prion protein gene polymorphism and Alzheimer's disease: one modulatory trait of cognitive decline? | Casadei VM et al. | 2001 | Journal of neurology, neurosurgery, and psychiatry |
| 11506406 | Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population. | Plaitakis A et al. | 2001 | Annals of neurology |
| 11506411 | Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype. | Head MW et al. | 2001 | Annals of neurology |
| 11749972 | Biochemical and structural studies of the prion protein polymorphism. | Petchanikow C et al. | 2001 | FEBS letters |
| 11840201 | Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease. | Erginel-Unaltuna N et al. | 2001 | European journal of human genetics |
| 12205650 | Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. | Dagvadorj A et al. | 2002 | Annals of neurology |
| 12601712 | PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease. | Dermaut B et al. | 2003 | Annals of neurology |
| 12867116 | Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK. | Brandel JP et al. | 2003 | Lancet (London, England) |
| 12891686 | Early cognitive decline is associated with prion protein codon 129 polymorphism. | Croes EA et al. | 2003 | Annals of neurology |
| 14520676 | Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan. | Ohkubo T et al. | 2003 | Annals of neurology |
| 14970845 | Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. | Croes EA et al. | 2004 | European journal of human genetics |
| 15277640 | Prion protein codon 129 polymorphism and risk of Alzheimer disease. | Riemenschneider M et al. | 2004 | Neurology |
| 15539564 | Human prion protein with valine 129 prevents expression of variant CJD phenotype. | Wadsworth JD et al. | 2004 | Science (New York, N.Y.) |
| 15987701 | The prion gene is associated with human long-term memory. | Papassotiropoulos A et al. | 2005 | Human molecular genetics |
| 16023289 | Genetic influences on oxidative stress and their association with normal cognitive ageing. | Kachiwala SJ et al. | 2005 | Neuroscience letters |
| 16217673 | Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population. | Jeong BH et al. | 2005 | Neurogenetics |
| 16227536 | Phenotypic variability in familial prion diseases due to the D178N mutation. | Zarranz JJ et al. | 2005 | Journal of neurology, neurosurgery, and psychiatry |
| 16315279 | Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. | Li X et al. | 2005 | Annals of neurology |
| 16391566 | Prion disease genetics. | Mead S et al. | 2006 | European journal of human genetics |
| 16565881 | Complete sequence data support lack of balancing selection on PRNP in a natural Chinese population. | Zan Q et al. | 2006 | Journal of human genetics |
| 16969862 | Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes. | Rohrer JD et al. | 2006 | Annals of neurology |
| 17202849 | No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population. | Ahn K et al. | 2006 | Experimental & molecular medicine |
| 18779388 | Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease. | Kavvoura FK et al. | 2008 | American journal of epidemiology |
| 18813964 | Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta. | Kauwe JS et al. | 2009 | Neurogenetics |
| 18830724 | Assessment of Alzheimer's disease case-control associations using family-based methods. | Schjeide BM et al. | 2009 | Neurogenetics |
| 18955686 | A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation. | Tunnell E et al. | 2008 | Neurology |
| 19038218 | Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model. | Dossena S et al. | 2008 | Neuron |
| 19081515 | Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. | Mead S et al. | 2009 | The Lancet. Neurology |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19923577 | A novel protective prion protein variant that colocalizes with kuru exposure. | Mead S et al. | 2009 | The New England journal of medicine |
| 20301407 | Genetic Prion Disease. | Zerr I et al. | 1993 | GeneReviews(®) |
| 20574532 | Intermediate phenotypes identify divergent pathways to Alzheimer's disease. | Shulman JM et al. | 2010 | PloS one |
| 21302343 | The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. | Rizzi TS et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21537449 | Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. | Webster J et al. | 2010 | International journal of molecular epidemiology and genetics |
| 21799773 | Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases. | Calero O et al. | 2011 | PloS one |
| 22210626 | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. | Mead S et al. | 2012 | Human molecular genetics |
| 23399523 | The association between the methionine/valine (M/V) polymorphism (rs1799990) in the PRNP gene and the risk of Alzheimer disease: an update by meta-analysis. | He J et al. | 2013 | Journal of the neurological sciences |
| 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 |
| 25104557 | Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. | Sassi C et al. | 2014 | Neurobiology of aging |
| 25239657 | Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. | van Blitterswijk M et al. | 2014 | Molecular neurodegeneration |
| 25897833 | Genome-wide association study of behavioural and psychiatric features in human prion disease. | Thompson AG et al. | 2015 | Translational psychiatry |
| 27600024 | Association between ABCB1 polymorphisms and haplotypes and Alzheimer's disease: a meta-analysis. | Zhong X et al. | 2016 | Scientific reports |
| 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 |
| 29059476 | Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease. | Roy S et al. | 2018 | Annals of human genetics |
| 30641209 | Associations of the NRF2/KEAP1 pathway and antioxidant defense gene polymorphisms with chronic obstructive pulmonary disease. | Korytina GF et al. | 2019 | Gene |
| 32949544 | Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study. | Jones E et al. | 2020 | The Lancet. Neurology |
| 33096746 | Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. | Thakran S et al. | 2020 | International journal of molecular sciences |
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.