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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.

rs4659599

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:241355798 (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
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.049620 (13134/264690, TOPMED)
T=0.020509 (5144/250814, GnomAD_exome)
T=0.047281 (6628/140182, GnomAD) (+ 23 more)
T=0.022154 (2680/120974, ExAC)
T=0.06199 (4878/78692, PAGE_STUDY)
T=0.00021 (6/28256, 14KJPN)
T=0.03037 (849/27952, ALFA)
T=0.00024 (4/16760, 8.3KJPN)
T=0.04890 (636/13006, GO-ESP)
T=0.0525 (336/6404, 1000G_30x)
T=0.0517 (259/5008, 1000G)
T=0.0103 (46/4480, Estonian)
T=0.0127 (49/3854, ALSPAC)
T=0.0132 (49/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.015 (15/998, GoNL)
T=0.008 (5/600, NorthernSweden)
T=0.023 (13/556, SGDP_PRJ)
T=0.034 (18/534, MGP)
T=0.050 (16/322, HapMap)
T=0.003 (1/304, FINRISK)
T=0.074 (16/216, Qatari)
T=0.009 (2/212, Vietnamese)
T=0.02 (1/56, Siberian)
T=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGS7 : 5 Prime UTR Variant
LOC124904601 : 2KB Upstream Variant
Publications
0 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 27952 T=0.03037 A=0.96963
European Sub 20398 T=0.01711 A=0.98289
African Sub 3554 T=0.1097 A=0.8903
African Others Sub 122 T=0.164 A=0.836
African American Sub 3432 T=0.1078 A=0.8922
Asian Sub 168 T=0.006 A=0.994
East Asian Sub 112 T=0.000 A=1.000
Other Asian Sub 56 T=0.02 A=0.98
Latin American 1 Sub 146 T=0.048 A=0.952
Latin American 2 Sub 610 T=0.015 A=0.985
South Asian Sub 98 T=0.00 A=1.00
Other Sub 2978 T=0.0312 A=0.9688


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
TopMed Global Study-wide 264690 T=0.049620 A=0.950380
gnomAD - Exomes Global Study-wide 250814 T=0.020509 A=0.979491
gnomAD - Exomes European Sub 134978 T=0.011491 A=0.988509
gnomAD - Exomes Asian Sub 48954 T=0.00909 A=0.99091
gnomAD - Exomes American Sub 34568 T=0.01172 A=0.98828
gnomAD - Exomes African Sub 16148 T=0.13085 A=0.86915
gnomAD - Exomes Ashkenazi Jewish Sub 10046 T=0.05166 A=0.94834
gnomAD - Exomes Other Sub 6120 T=0.0181 A=0.9819
gnomAD - Genomes Global Study-wide 140182 T=0.047281 A=0.952719
gnomAD - Genomes European Sub 75960 T=0.01212 A=0.98788
gnomAD - Genomes African Sub 41970 T=0.12361 A=0.87639
gnomAD - Genomes American Sub 13650 T=0.01919 A=0.98081
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0463 A=0.9537
gnomAD - Genomes East Asian Sub 3132 T=0.0029 A=0.9971
gnomAD - Genomes Other Sub 2146 T=0.0438 A=0.9562
ExAC Global Study-wide 120974 T=0.022154 A=0.977846
ExAC Europe Sub 73114 T=0.01325 A=0.98675
ExAC Asian Sub 25110 T=0.00892 A=0.99108
ExAC American Sub 11556 T=0.01038 A=0.98962
ExAC African Sub 10292 T=0.13156 A=0.86844
ExAC Other Sub 902 T=0.014 A=0.986
The PAGE Study Global Study-wide 78692 T=0.06199 A=0.93801
The PAGE Study AfricanAmerican Sub 32512 T=0.11885 A=0.88115
The PAGE Study Mexican Sub 10808 T=0.01323 A=0.98677
The PAGE Study Asian Sub 8318 T=0.0008 A=0.9992
The PAGE Study PuertoRican Sub 7918 T=0.0393 A=0.9607
The PAGE Study NativeHawaiian Sub 4534 T=0.0068 A=0.9932
The PAGE Study Cuban Sub 4228 T=0.0274 A=0.9726
The PAGE Study Dominican Sub 3826 T=0.0640 A=0.9360
The PAGE Study CentralAmerican Sub 2450 T=0.0306 A=0.9694
The PAGE Study SouthAmerican Sub 1982 T=0.0192 A=0.9808
The PAGE Study NativeAmerican Sub 1260 T=0.0254 A=0.9746
The PAGE Study SouthAsian Sub 856 T=0.019 A=0.981
14KJPN JAPANESE Study-wide 28256 T=0.00021 A=0.99979
Allele Frequency Aggregator Total Global 27952 T=0.03037 A=0.96963
Allele Frequency Aggregator European Sub 20398 T=0.01711 A=0.98289
Allele Frequency Aggregator African Sub 3554 T=0.1097 A=0.8903
Allele Frequency Aggregator Other Sub 2978 T=0.0312 A=0.9688
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.015 A=0.985
Allele Frequency Aggregator Asian Sub 168 T=0.006 A=0.994
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.048 A=0.952
Allele Frequency Aggregator South Asian Sub 98 T=0.00 A=1.00
8.3KJPN JAPANESE Study-wide 16760 T=0.00024 A=0.99976
GO Exome Sequencing Project Global Study-wide 13006 T=0.04890 A=0.95110
GO Exome Sequencing Project European American Sub 8600 T=0.0136 A=0.9864
GO Exome Sequencing Project African American Sub 4406 T=0.1178 A=0.8822
1000Genomes_30x Global Study-wide 6404 T=0.0525 A=0.9475
1000Genomes_30x African Sub 1786 T=0.1618 A=0.8382
1000Genomes_30x Europe Sub 1266 T=0.0118 A=0.9882
1000Genomes_30x South Asian Sub 1202 T=0.0116 A=0.9884
1000Genomes_30x East Asian Sub 1170 T=0.0077 A=0.9923
1000Genomes_30x American Sub 980 T=0.009 A=0.991
1000Genomes Global Study-wide 5008 T=0.0517 A=0.9483
1000Genomes African Sub 1322 T=0.1679 A=0.8321
1000Genomes East Asian Sub 1008 T=0.0079 A=0.9921
1000Genomes Europe Sub 1006 T=0.0119 A=0.9881
1000Genomes South Asian Sub 978 T=0.010 A=0.990
1000Genomes American Sub 694 T=0.010 A=0.990
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0103 A=0.9897
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0127 A=0.9873
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0132 A=0.9868
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0000 A=1.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.0000 A=1.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.015 A=0.985
Northern Sweden ACPOP Study-wide 600 T=0.008 A=0.992
SGDP_PRJ Global Study-wide 556 T=0.023 A=0.977
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.034 A=0.966
HapMap Global Study-wide 322 T=0.050 A=0.950
HapMap African Sub 118 T=0.127 A=0.873
HapMap American Sub 116 T=0.009 A=0.991
HapMap Asian Sub 88 T=0.00 A=1.00
FINRISK Finnish from FINRISK project Study-wide 304 T=0.003 A=0.997
Qatari Global Study-wide 216 T=0.074 A=0.926
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.009 A=0.991
Siberian Global Study-wide 56 T=0.02 A=0.98
The Danish reference pan genome Danish Study-wide 40 T=0.00 A=1.00
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 1 NC_000001.11:g.241355798T>A
GRCh37.p13 chr 1 NC_000001.10:g.241519098T>A
Gene: RGS7, regulator of G protein signaling 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RGS7 transcript variant 1 NM_002924.6:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 2 NM_001282773.2:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 8 NM_001350116.1:c.-172= N/A 5 Prime UTR Variant
RGS7 transcript variant 3 NM_001282775.2:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 4 NM_001282778.2:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 9 NM_001364886.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 12 NM_001374808.1:c.-246= N/A 5 Prime UTR Variant
RGS7 transcript variant 18 NM_001374814.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 20 NM_001374816.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 10 NM_001374806.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 14 NM_001374810.1:c.-311= N/A 5 Prime UTR Variant
RGS7 transcript variant 16 NM_001374811.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 17 NM_001374813.1:c.-311= N/A 5 Prime UTR Variant
RGS7 transcript variant 11 NM_001374807.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 19 NM_001374815.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 13 NM_001374809.1:c.-311= N/A 5 Prime UTR Variant
RGS7 transcript variant 15 NM_001374812.1:c.-22= N/A 5 Prime UTR Variant
RGS7 transcript variant 5 NM_001350113.2:c.-204= N/A 5 Prime UTR Variant
RGS7 transcript variant 6 NM_001350114.2:c.-172= N/A 5 Prime UTR Variant
RGS7 transcript variant 7 NM_001350115.2:c.-204= N/A 5 Prime UTR Variant
RGS7 transcript variant X2 XM_017002009.2:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X1 XM_047426980.1:c. N/A Genic Upstream Transcript Variant
Gene: LOC124904601, uncharacterized LOC124904601 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124904601 transcript variant X1 XR_007067051.1:n. N/A Upstream Transcript Variant
LOC124904601 transcript variant X2 XR_007067052.1:n. N/A Upstream Transcript 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.

Not Reported in ClinVar
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 T= A
GRCh38.p14 chr 1 NC_000001.11:g.241355798= NC_000001.11:g.241355798T>A
GRCh37.p13 chr 1 NC_000001.10:g.241519098= NC_000001.10:g.241519098T>A
RGS7 transcript variant 1 NM_002924.6:c.-22= NM_002924.6:c.-22A>T
RGS7 transcript variant 1 NM_002924.5:c.-22T>A NM_002924.5:c.-22=
RGS7 transcript NM_002924.4:c.-22= NM_002924.4:c.-22A>T
RGS7 transcript variant 5 NM_001350113.2:c.-204= NM_001350113.2:c.-204A>T
RGS7 transcript variant 5 NM_001350113.1:c.-204= NM_001350113.1:c.-204A>T
RGS7 transcript variant 6 NM_001350114.2:c.-172= NM_001350114.2:c.-172A>T
RGS7 transcript variant 6 NM_001350114.1:c.-172= NM_001350114.1:c.-172A>T
RGS7 transcript variant 3 NM_001282775.2:c.-22= NM_001282775.2:c.-22A>T
RGS7 transcript variant 3 NM_001282775.1:c.-22T>A NM_001282775.1:c.-22=
RGS7 transcript variant 7 NM_001350115.2:c.-204= NM_001350115.2:c.-204A>T
RGS7 transcript variant 7 NM_001350115.1:c.-204= NM_001350115.1:c.-204A>T
RGS7 transcript variant 4 NM_001282778.2:c.-22= NM_001282778.2:c.-22A>T
RGS7 transcript variant 4 NM_001282778.1:c.-22T>A NM_001282778.1:c.-22=
RGS7 transcript variant 2 NM_001282773.2:c.-22= NM_001282773.2:c.-22A>T
RGS7 transcript variant 2 NM_001282773.1:c.-22T>A NM_001282773.1:c.-22=
RGS7 transcript variant 12 NM_001374808.1:c.-246= NM_001374808.1:c.-246A>T
RGS7 transcript variant 14 NM_001374810.1:c.-311= NM_001374810.1:c.-311A>T
RGS7 transcript variant 10 NM_001374806.1:c.-22= NM_001374806.1:c.-22A>T
RGS7 transcript variant 13 NM_001374809.1:c.-311= NM_001374809.1:c.-311A>T
RGS7 transcript variant 18 NM_001374814.1:c.-22= NM_001374814.1:c.-22A>T
RGS7 transcript variant 19 NM_001374815.1:c.-22= NM_001374815.1:c.-22A>T
RGS7 transcript variant 15 NM_001374812.1:c.-22= NM_001374812.1:c.-22A>T
RGS7 transcript variant 20 NM_001374816.1:c.-22= NM_001374816.1:c.-22A>T
RGS7 transcript variant 16 NM_001374811.1:c.-22= NM_001374811.1:c.-22A>T
RGS7 transcript variant 17 NM_001374813.1:c.-311= NM_001374813.1:c.-311A>T
RGS7 transcript variant 11 NM_001374807.1:c.-22= NM_001374807.1:c.-22A>T
RGS7 transcript variant 9 NM_001364886.1:c.-22= NM_001364886.1:c.-22A>T
RGS7 transcript variant 8 NM_001350116.1:c.-172= NM_001350116.1:c.-172A>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#.

111 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6414309 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss9855365 Jul 11, 2003 (116)
3 WI_SSAHASNP ss11384937 Jul 11, 2003 (116)
4 SC_SNP ss15419539 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss17361879 Feb 27, 2004 (120)
6 SSAHASNP ss20570976 Apr 05, 2004 (121)
7 ABI ss41321355 Mar 13, 2006 (126)
8 PERLEGEN ss46534808 Mar 13, 2006 (126)
9 SI_EXO ss52079085 Oct 14, 2006 (127)
10 ILLUMINA ss65739149 Oct 14, 2006 (127)
11 HGSV ss77274387 Dec 07, 2007 (129)
12 HGSV ss82588968 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss88033144 Mar 23, 2008 (129)
14 HUMANGENOME_JCVI ss98015939 Feb 05, 2009 (130)
15 BGI ss106644562 Feb 05, 2009 (130)
16 1000GENOMES ss109093922 Jan 23, 2009 (130)
17 1000GENOMES ss112041789 Jan 25, 2009 (130)
18 ILLUMINA-UK ss119272369 Feb 15, 2009 (130)
19 ENSEMBL ss138185400 Dec 01, 2009 (131)
20 ENSEMBL ss139015670 Dec 01, 2009 (131)
21 GMI ss156505595 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss165544748 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss165936504 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss167582757 Jul 04, 2010 (132)
25 BUSHMAN ss199841728 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss205147849 Jul 04, 2010 (132)
27 1000GENOMES ss218979778 Jul 14, 2010 (132)
28 1000GENOMES ss230975856 Jul 14, 2010 (132)
29 BL ss253923554 May 09, 2011 (134)
30 GMI ss276290205 May 04, 2012 (137)
31 GMI ss284261091 Apr 25, 2013 (138)
32 PJP ss290771392 May 09, 2011 (134)
33 1000GENOMES ss489799240 May 04, 2012 (137)
34 ILLUMINA ss534682629 Sep 08, 2015 (146)
35 TISHKOFF ss555255597 Apr 25, 2013 (138)
36 SSMP ss648829729 Apr 25, 2013 (138)
37 NHLBI-ESP ss712392520 Apr 25, 2013 (138)
38 EVA-GONL ss976334176 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1068745374 Aug 21, 2014 (142)
40 1000GENOMES ss1295347690 Aug 21, 2014 (142)
41 DDI ss1426168324 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1574800993 Apr 01, 2015 (144)
43 EVA_FINRISK ss1584016292 Apr 01, 2015 (144)
44 EVA_DECODE ss1585738441 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1602514623 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1645508656 Apr 01, 2015 (144)
47 EVA_EXAC ss1686137436 Apr 01, 2015 (144)
48 EVA_MGP ss1710950000 Apr 01, 2015 (144)
49 HAMMER_LAB ss1796001891 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1919555949 Feb 12, 2016 (147)
51 ILLUMINA ss1958373927 Feb 12, 2016 (147)
52 GENOMED ss1967018806 Jul 19, 2016 (147)
53 JJLAB ss2020305609 Sep 14, 2016 (149)
54 USC_VALOUEV ss2148343653 Dec 20, 2016 (150)
55 HUMAN_LONGEVITY ss2171521951 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2624666168 Nov 08, 2017 (151)
57 GRF ss2698347304 Nov 08, 2017 (151)
58 GNOMAD ss2732402256 Nov 08, 2017 (151)
59 GNOMAD ss2746600761 Nov 08, 2017 (151)
60 GNOMAD ss2768172425 Nov 08, 2017 (151)
61 SWEGEN ss2988741464 Nov 08, 2017 (151)
62 ILLUMINA ss3021198534 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3023915253 Nov 08, 2017 (151)
64 CSHL ss3343997708 Nov 08, 2017 (151)
65 ILLUMINA ss3626350879 Oct 11, 2018 (152)
66 OMUKHERJEE_ADBS ss3646256165 Oct 11, 2018 (152)
67 URBANLAB ss3646927467 Oct 11, 2018 (152)
68 ILLUMINA ss3651544671 Oct 11, 2018 (152)
69 EGCUT_WGS ss3656702712 Jul 12, 2019 (153)
70 EVA_DECODE ss3688981626 Jul 12, 2019 (153)
71 ILLUMINA ss3725122114 Jul 12, 2019 (153)
72 ACPOP ss3728021439 Jul 12, 2019 (153)
73 EVA ss3747556781 Jul 12, 2019 (153)
74 PAGE_CC ss3770885150 Jul 12, 2019 (153)
75 PACBIO ss3783737718 Jul 12, 2019 (153)
76 PACBIO ss3789342455 Jul 12, 2019 (153)
77 PACBIO ss3794214914 Jul 12, 2019 (153)
78 KHV_HUMAN_GENOMES ss3800560406 Jul 12, 2019 (153)
79 EVA ss3823733352 Apr 25, 2020 (154)
80 EVA ss3826739566 Apr 25, 2020 (154)
81 EVA ss3836772560 Apr 25, 2020 (154)
82 EVA ss3842185520 Apr 25, 2020 (154)
83 SGDP_PRJ ss3851267829 Apr 25, 2020 (154)
84 KRGDB ss3896628276 Apr 25, 2020 (154)
85 KOGIC ss3946851061 Apr 25, 2020 (154)
86 FSA-LAB ss3983969183 Apr 27, 2021 (155)
87 FSA-LAB ss3983969184 Apr 27, 2021 (155)
88 EVA ss3986016257 Apr 27, 2021 (155)
89 EVA ss3986166250 Apr 27, 2021 (155)
90 TOPMED ss4489583779 Apr 27, 2021 (155)
91 TOMMO_GENOMICS ss5149229587 Apr 27, 2021 (155)
92 EVA ss5237167347 Apr 27, 2021 (155)
93 1000G_HIGH_COVERAGE ss5246409117 Oct 17, 2022 (156)
94 EVA ss5325904243 Oct 17, 2022 (156)
95 HUGCELL_USP ss5446788308 Oct 17, 2022 (156)
96 1000G_HIGH_COVERAGE ss5520810745 Oct 17, 2022 (156)
97 EVA ss5623919229 Oct 17, 2022 (156)
98 EVA ss5624005104 Oct 17, 2022 (156)
99 SANFORD_IMAGENETICS ss5627799103 Oct 17, 2022 (156)
100 TOMMO_GENOMICS ss5677220345 Oct 17, 2022 (156)
101 EVA ss5800048018 Oct 17, 2022 (156)
102 EVA ss5800091576 Oct 17, 2022 (156)
103 YY_MCH ss5801797845 Oct 17, 2022 (156)
104 EVA ss5833513041 Oct 17, 2022 (156)
105 EVA ss5848290313 Oct 17, 2022 (156)
106 EVA ss5849367026 Oct 17, 2022 (156)
107 EVA ss5912678001 Oct 17, 2022 (156)
108 EVA ss5936514597 Oct 17, 2022 (156)
109 EVA ss5939649687 Oct 17, 2022 (156)
110 EVA ss5980026834 Oct 17, 2022 (156)
111 EVA ss5981202171 Oct 17, 2022 (156)
112 1000Genomes NC_000001.10 - 241519098 Oct 11, 2018 (152)
113 1000Genomes_30x NC_000001.11 - 241355798 Oct 17, 2022 (156)
114 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 241519098 Oct 11, 2018 (152)
115 Genetic variation in the Estonian population NC_000001.10 - 241519098 Oct 11, 2018 (152)
116 ExAC NC_000001.10 - 241519098 Oct 11, 2018 (152)
117 FINRISK NC_000001.10 - 241519098 Apr 25, 2020 (154)
118 The Danish reference pan genome NC_000001.10 - 241519098 Apr 25, 2020 (154)
119 gnomAD - Genomes NC_000001.11 - 241355798 Apr 27, 2021 (155)
120 gnomAD - Exomes NC_000001.10 - 241519098 Jul 12, 2019 (153)
121 GO Exome Sequencing Project NC_000001.10 - 241519098 Oct 11, 2018 (152)
122 Genome of the Netherlands Release 5 NC_000001.10 - 241519098 Apr 25, 2020 (154)
123 HapMap NC_000001.11 - 241355798 Apr 25, 2020 (154)
124 KOREAN population from KRGDB NC_000001.10 - 241519098 Apr 25, 2020 (154)
125 Korean Genome Project NC_000001.11 - 241355798 Apr 25, 2020 (154)
126 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 241519098 Apr 25, 2020 (154)
127 Northern Sweden NC_000001.10 - 241519098 Jul 12, 2019 (153)
128 The PAGE Study NC_000001.11 - 241355798 Jul 12, 2019 (153)
129 Qatari NC_000001.10 - 241519098 Apr 25, 2020 (154)
130 SGDP_PRJ NC_000001.10 - 241519098 Apr 25, 2020 (154)
131 Siberian NC_000001.10 - 241519098 Apr 25, 2020 (154)
132 8.3KJPN NC_000001.10 - 241519098 Apr 27, 2021 (155)
133 14KJPN NC_000001.11 - 241355798 Oct 17, 2022 (156)
134 TopMed NC_000001.11 - 241355798 Apr 27, 2021 (155)
135 UK 10K study - Twins NC_000001.10 - 241519098 Oct 11, 2018 (152)
136 A Vietnamese Genetic Variation Database NC_000001.10 - 241519098 Jul 12, 2019 (153)
137 ALFA NC_000001.11 - 241355798 Apr 27, 2021 (155)
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)
rs59480344 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77274387, ss82588968 NC_000001.8:237845138:T:A NC_000001.11:241355797:T:A (self)
ss88033144, ss109093922, ss112041789, ss119272369, ss165544748, ss165936504, ss167582757, ss199841728, ss205147849, ss253923554, ss276290205, ss284261091, ss290771392, ss1585738441 NC_000001.9:239585720:T:A NC_000001.11:241355797:T:A (self)
6228443, 3451619, 2440960, 5380360, 12753, 1961712, 1441186, 191853, 1512189, 3805670, 66752, 1306304, 1597879, 3284809, 860007, 7198894, 3451619, 752833, ss218979778, ss230975856, ss489799240, ss534682629, ss555255597, ss648829729, ss712392520, ss976334176, ss1068745374, ss1295347690, ss1426168324, ss1574800993, ss1584016292, ss1602514623, ss1645508656, ss1686137436, ss1710950000, ss1796001891, ss1919555949, ss1958373927, ss1967018806, ss2020305609, ss2148343653, ss2624666168, ss2698347304, ss2732402256, ss2746600761, ss2768172425, ss2988741464, ss3021198534, ss3343997708, ss3626350879, ss3646256165, ss3651544671, ss3656702712, ss3728021439, ss3747556781, ss3783737718, ss3789342455, ss3794214914, ss3823733352, ss3826739566, ss3836772560, ss3851267829, ss3896628276, ss3983969183, ss3983969184, ss3986016257, ss3986166250, ss5149229587, ss5325904243, ss5623919229, ss5624005104, ss5627799103, ss5800048018, ss5800091576, ss5833513041, ss5848290313, ss5936514597, ss5939649687, ss5980026834, ss5981202171 NC_000001.10:241519097:T:A NC_000001.11:241355797:T:A (self)
8336680, 44558743, 306713, 3229062, 106619, 11057449, 53190114, 1038582790, ss2171521951, ss3023915253, ss3646927467, ss3688981626, ss3725122114, ss3770885150, ss3800560406, ss3842185520, ss3946851061, ss4489583779, ss5237167347, ss5246409117, ss5446788308, ss5520810745, ss5677220345, ss5801797845, ss5849367026, ss5912678001 NC_000001.11:241355797:T:A NC_000001.11:241355797:T:A (self)
ss9855365, ss11384937 NT_004836.14:6262456:T:A NC_000001.11:241355797:T:A (self)
ss15419539, ss17361879, ss20570976 NT_004836.15:6276886:T:A NC_000001.11:241355797:T:A (self)
ss52079085 NT_004836.16:6276886:T:A NC_000001.11:241355797:T:A (self)
ss6414309, ss41321355, ss46534808, ss65739149, ss98015939, ss106644562, ss138185400, ss139015670, ss156505595 NT_167186.1:35036876:T:A NC_000001.11:241355797:T:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs4659599

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.post761+d5e8e07