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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.

rs11800462

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:6464441 (GRCh38.p13) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.102305 (27079/264690, TOPMED)
C=0.074797 (19345/258632, ALFA)
C=0.072518 (17688/243912, GnomAD_exome) (+ 23 more)
C=0.105658 (14813/140198, GnomAD)
C=0.09020 (8692/96364, ExAC)
C=0.11075 (8715/78688, PAGE_STUDY)
C=0.01158 (194/16760, 8.3KJPN)
C=0.10731 (1395/13000, GO-ESP)
C=0.0986 (494/5008, 1000G)
C=0.0882 (395/4480, Estonian)
C=0.0656 (253/3854, ALSPAC)
C=0.0693 (257/3708, TWINSUK)
C=0.0123 (36/2920, KOREAN)
C=0.0787 (164/2084, HGDP_Stanford)
C=0.1254 (216/1722, HapMap)
C=0.082 (82/998, GoNL)
C=0.004 (3/792, PRJEB37584)
C=0.073 (44/600, NorthernSweden)
C=0.030 (16/534, MGP)
C=0.085 (24/282, FINRISK)
C=0.111 (24/216, Qatari)
T=0.45 (34/76, SGDP_PRJ)
C=0.04 (2/52, Ancient Sardinia)
C=0.10 (4/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TNFRSF25 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.6464441T>C
GRCh37.p13 chr 1 NC_000001.10:g.6524501T>C
PLEKHG5 RefSeqGene (LRG_262) NG_007978.1:g.60569A>G
TNFRSF25 RefSeqGene NG_029910.1:g.6755A>G
Gene: TNFRSF25, TNF receptor superfamily member 25 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TNFRSF25 transcript variant 7 NM_148970.2:c.160+999A>G N/A Intron Variant
TNFRSF25 transcript variant 2 NM_003790.3:c.476A>G D [GAT] > G [GGT] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 2 precursor NP_003781.1:p.Asp159Gly D (Asp) > G (Gly) Missense Variant
TNFRSF25 transcript variant 12 NM_001039664.2:c.476A>G D [GAT] > G [GGT] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 12 precursor NP_001034753.1:p.Asp159Gly D (Asp) > G (Gly) Missense Variant
TNFRSF25 transcript variant 1 NM_148965.2:c.476A>G D [GAT] > G [GGT] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 1 precursor NP_683866.1:p.Asp159Gly D (Asp) > G (Gly) Missense Variant
TNFRSF25 transcript variant 4 NM_148967.2:c.341A>G D [GAT] > G [GGT] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 4 precursor NP_683868.1:p.Asp114Gly D (Asp) > G (Gly) Missense Variant
TNFRSF25 transcript variant 3 NM_148966.2:c.476A>G D [GAT] > G [GGT] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 3 precursor NP_683867.1:p.Asp159Gly D (Asp) > G (Gly) 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.

Not Reported in ClinVar

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 258632 T=0.925203 C=0.074797
European Sub 219820 T=0.929374 C=0.070626
African Sub 10760 T=0.81719 C=0.18281
African Others Sub 356 T=0.767 C=0.233
African American Sub 10404 T=0.81892 C=0.18108
Asian Sub 832 T=0.994 C=0.006
East Asian Sub 658 T=0.994 C=0.006
Other Asian Sub 174 T=0.994 C=0.006
Latin American 1 Sub 1190 T=0.9017 C=0.0983
Latin American 2 Sub 6920 T=0.9630 C=0.0370
South Asian Sub 5048 T=0.9166 C=0.0834
Other Sub 14062 T=0.92505 C=0.07495


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=0.897695 C=0.102305
gnomAD - Exomes Global Study-wide 243912 T=0.927482 C=0.072518
gnomAD - Exomes European Sub 130850 T=0.925930 C=0.074070
gnomAD - Exomes Asian Sub 47924 T=0.94086 C=0.05914
gnomAD - Exomes American Sub 33742 T=0.96331 C=0.03669
gnomAD - Exomes African Sub 15542 T=0.80556 C=0.19444
gnomAD - Exomes Ashkenazi Jewish Sub 9856 T=0.9511 C=0.0489
gnomAD - Exomes Other Sub 5998 T=0.9300 C=0.0700
gnomAD - Genomes Global Study-wide 140198 T=0.894342 C=0.105658
gnomAD - Genomes European Sub 75932 T=0.92608 C=0.07392
gnomAD - Genomes African Sub 42016 T=0.80805 C=0.19195
gnomAD - Genomes American Sub 13644 T=0.94159 C=0.05841
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9548 C=0.0452
gnomAD - Genomes East Asian Sub 3132 T=0.9978 C=0.0022
gnomAD - Genomes Other Sub 2152 T=0.9159 C=0.0841
ExAC Global Study-wide 96364 T=0.90980 C=0.09020
ExAC Europe Sub 58586 T=0.91725 C=0.08275
ExAC Asian Sub 20652 T=0.92514 C=0.07486
ExAC African Sub 8662 T=0.7860 C=0.2140
ExAC American Sub 7766 T=0.9504 C=0.0496
ExAC Other Sub 698 T=0.915 C=0.085
The PAGE Study Global Study-wide 78688 T=0.88925 C=0.11075
The PAGE Study AfricanAmerican Sub 32510 T=0.81212 C=0.18788
The PAGE Study Mexican Sub 10810 T=0.95680 C=0.04320
The PAGE Study Asian Sub 8314 T=0.9880 C=0.0120
The PAGE Study PuertoRican Sub 7918 T=0.9148 C=0.0852
The PAGE Study NativeHawaiian Sub 4532 T=0.9704 C=0.0296
The PAGE Study Cuban Sub 4228 T=0.9246 C=0.0754
The PAGE Study Dominican Sub 3828 T=0.8772 C=0.1228
The PAGE Study CentralAmerican Sub 2450 T=0.9371 C=0.0629
The PAGE Study SouthAmerican Sub 1982 T=0.9430 C=0.0570
The PAGE Study NativeAmerican Sub 1260 T=0.9286 C=0.0714
The PAGE Study SouthAsian Sub 856 T=0.901 C=0.099
8.3KJPN JAPANESE Study-wide 16760 T=0.98842 C=0.01158
GO Exome Sequencing Project Global Study-wide 13000 T=0.89269 C=0.10731
GO Exome Sequencing Project European American Sub 8598 T=0.9308 C=0.0692
GO Exome Sequencing Project African American Sub 4402 T=0.8183 C=0.1817
1000Genomes Global Study-wide 5008 T=0.9014 C=0.0986
1000Genomes African Sub 1322 T=0.7920 C=0.2080
1000Genomes East Asian Sub 1008 T=0.9940 C=0.0060
1000Genomes Europe Sub 1006 T=0.9314 C=0.0686
1000Genomes South Asian Sub 978 T=0.892 C=0.108
1000Genomes American Sub 694 T=0.945 C=0.055
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9118 C=0.0882
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9344 C=0.0656
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9307 C=0.0693
KOREAN population from KRGDB KOREAN Study-wide 2920 T=0.9877 C=0.0123
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.9213 C=0.0787
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.996 C=0.004
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.930 C=0.070
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.909 C=0.091
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.919 C=0.081
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.715 C=0.285
HGDP-CEPH-db Supplement 1 America Sub 216 T=1.000 C=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.92 C=0.08
HapMap Global Study-wide 1722 T=0.8746 C=0.1254
HapMap African Sub 692 T=0.828 C=0.172
HapMap American Sub 600 T=0.870 C=0.130
HapMap Asian Sub 254 T=0.984 C=0.016
HapMap Europe Sub 176 T=0.915 C=0.085
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.918 C=0.082
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.996 C=0.004
CNV burdens in cranial meningiomas CRM Sub 792 T=0.996 C=0.004
Northern Sweden ACPOP Study-wide 600 T=0.927 C=0.073
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.970 C=0.030
FINRISK Finnish from FINRISK project Study-wide 282 T=0.915 C=0.085
Qatari Global Study-wide 216 T=0.889 C=0.111
SGDP_PRJ Global Study-wide 76 T=0.45 C=0.55
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 52 T=0.96 C=0.04
The Danish reference pan genome Danish Study-wide 40 T=0.90 C=0.10
Siberian Global Study-wide 4 T=0.5 C=0.5
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= C
GRCh38.p13 chr 1 NC_000001.11:g.6464441= NC_000001.11:g.6464441T>C
GRCh37.p13 chr 1 NC_000001.10:g.6524501= NC_000001.10:g.6524501T>C
PLEKHG5 RefSeqGene (LRG_262) NG_007978.1:g.60569= NG_007978.1:g.60569A>G
TNFRSF25 RefSeqGene NG_029910.1:g.6755= NG_029910.1:g.6755A>G
TNFRSF25 transcript variant 2 NM_003790.3:c.476= NM_003790.3:c.476A>G
TNFRSF25 transcript variant 2 NM_003790.2:c.476= NM_003790.2:c.476A>G
TNFRSF25 transcript variant 1 NM_148965.2:c.476= NM_148965.2:c.476A>G
TNFRSF25 transcript variant 1 NM_148965.1:c.476= NM_148965.1:c.476A>G
TNFRSF25 transcript variant 3 NM_148966.2:c.476= NM_148966.2:c.476A>G
TNFRSF25 transcript variant 3 NM_148966.1:c.476= NM_148966.1:c.476A>G
TNFRSF25 transcript variant 4 NM_148967.2:c.341= NM_148967.2:c.341A>G
TNFRSF25 transcript variant 4 NM_148967.1:c.341= NM_148967.1:c.341A>G
TNFRSF25 transcript variant 12 NM_001039664.2:c.476= NM_001039664.2:c.476A>G
TNFRSF25 transcript variant 12 NM_001039664.1:c.476= NM_001039664.1:c.476A>G
TNFRSF25 transcript variant 5 NM_148968.1:c.476= NM_148968.1:c.476A>G
TNFRSF25 transcript variant 6 NM_148969.1:c.476= NM_148969.1:c.476A>G
TNFRSF25 transcript variant 8 NM_148971.1:c.476= NM_148971.1:c.476A>G
TNFRSF25 transcript variant 9 NM_148972.1:c.476= NM_148972.1:c.476A>G
TNFRSF25 transcript variant 10 NM_148973.1:c.341= NM_148973.1:c.341A>G
tumor necrosis factor receptor superfamily member 25 isoform 2 precursor NP_003781.1:p.Asp159= NP_003781.1:p.Asp159Gly
tumor necrosis factor receptor superfamily member 25 isoform 1 precursor NP_683866.1:p.Asp159= NP_683866.1:p.Asp159Gly
tumor necrosis factor receptor superfamily member 25 isoform 3 precursor NP_683867.1:p.Asp159= NP_683867.1:p.Asp159Gly
tumor necrosis factor receptor superfamily member 25 isoform 4 precursor NP_683868.1:p.Asp114= NP_683868.1:p.Asp114Gly
tumor necrosis factor receptor superfamily member 25 isoform 12 precursor NP_001034753.1:p.Asp159= NP_001034753.1:p.Asp159Gly
TNFRSF25 transcript variant 7 NM_148970.1:c.160+999= NM_148970.1:c.160+999A>G
TNFRSF25 transcript variant 7 NM_148970.2:c.160+999= NM_148970.2:c.160+999A>G
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#.

133 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17329114 Feb 28, 2004 (120)
2 SSAHASNP ss20495520 Apr 05, 2004 (121)
3 APPLERA_GI ss48420538 Mar 15, 2006 (126)
4 ILLUMINA ss65730545 Oct 16, 2006 (127)
5 ILLUMINA ss66551382 Dec 01, 2006 (127)
6 ILLUMINA ss66958214 Dec 01, 2006 (127)
7 ILLUMINA ss67121988 Dec 01, 2006 (127)
8 PERLEGEN ss68757598 May 17, 2007 (127)
9 ILLUMINA ss70400327 May 17, 2007 (127)
10 EGP_SNPS ss70457401 May 17, 2007 (127)
11 ILLUMINA ss70543417 May 26, 2008 (130)
12 ILLUMINA ss71075835 May 17, 2007 (127)
13 ILLUMINA ss75119488 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss85144639 Dec 15, 2007 (130)
15 CANCER-GENOME ss86341804 Mar 23, 2008 (129)
16 ILLUMINA ss121508975 Dec 01, 2009 (131)
17 ILLUMINA ss153066395 Dec 01, 2009 (131)
18 ILLUMINA ss159190621 Dec 01, 2009 (131)
19 SEATTLESEQ ss159695902 Dec 01, 2009 (131)
20 ILLUMINA ss160005679 Dec 01, 2009 (131)
21 ENSEMBL ss161267229 Dec 01, 2009 (131)
22 ILLUMINA ss169966090 Jul 04, 2010 (132)
23 ILLUMINA ss171590828 Jul 04, 2010 (132)
24 BUSHMAN ss197965733 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss205416149 Jul 04, 2010 (132)
26 1000GENOMES ss210460614 Jul 14, 2010 (132)
27 1000GENOMES ss217314398 Jul 14, 2010 (132)
28 1000GENOMES ss217405832 Jul 14, 2010 (132)
29 1000GENOMES ss217410490 Jul 14, 2010 (132)
30 1000GENOMES ss217410980 Jul 14, 2010 (132)
31 1000GENOMES ss218218073 Jul 14, 2010 (132)
32 1000GENOMES ss230414449 Jul 14, 2010 (132)
33 NHLBI-ESP ss341928664 May 09, 2011 (134)
34 ILLUMINA ss479599007 May 04, 2012 (137)
35 ILLUMINA ss479603744 May 04, 2012 (137)
36 ILLUMINA ss480088465 Sep 08, 2015 (146)
37 ILLUMINA ss484598228 May 04, 2012 (137)
38 1000GENOMES ss489717684 May 04, 2012 (137)
39 EXOME_CHIP ss491285326 May 04, 2012 (137)
40 CLINSEQ_SNP ss491583249 May 04, 2012 (137)
41 ILLUMINA ss536725480 Sep 08, 2015 (146)
42 TISHKOFF ss553757161 Apr 25, 2013 (138)
43 SSMP ss647552978 Apr 25, 2013 (138)
44 ILLUMINA ss778391737 Aug 21, 2014 (142)
45 ILLUMINA ss780902421 Aug 21, 2014 (142)
46 ILLUMINA ss782745937 Aug 21, 2014 (142)
47 ILLUMINA ss783589606 Aug 21, 2014 (142)
48 ILLUMINA ss783712775 Aug 21, 2014 (142)
49 ILLUMINA ss825369635 Apr 01, 2015 (144)
50 ILLUMINA ss831997963 Apr 01, 2015 (144)
51 ILLUMINA ss832703102 Aug 21, 2014 (142)
52 ILLUMINA ss833293791 Aug 21, 2014 (142)
53 ILLUMINA ss833846816 Aug 21, 2014 (142)
54 JMKIDD_LAB ss974432904 Aug 21, 2014 (142)
55 EVA-GONL ss974820724 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1067415443 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067645522 Aug 21, 2014 (142)
58 1000GENOMES ss1289542636 Aug 21, 2014 (142)
59 DDI ss1425701806 Apr 01, 2015 (144)
60 EVA_GENOME_DK ss1573870589 Apr 01, 2015 (144)
61 EVA_FINRISK ss1584004192 Apr 01, 2015 (144)
62 EVA_DECODE ss1584178929 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1599475882 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1642469915 Apr 01, 2015 (144)
65 EVA_EXAC ss1685271936 Apr 01, 2015 (144)
66 EVA_MGP ss1710886357 Apr 01, 2015 (144)
67 EVA_SVP ss1712308793 Apr 01, 2015 (144)
68 ILLUMINA ss1751929344 Sep 08, 2015 (146)
69 HAMMER_LAB ss1793836951 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1918018209 Feb 12, 2016 (147)
71 ILLUMINA ss1958237404 Feb 12, 2016 (147)
72 JJLAB ss2019524941 Sep 14, 2016 (149)
73 USC_VALOUEV ss2147518262 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2159755136 Dec 20, 2016 (150)
75 TOPMED ss2321912269 Dec 20, 2016 (150)
76 ILLUMINA ss2632472444 Nov 08, 2017 (151)
77 GRF ss2697413660 Nov 08, 2017 (151)
78 ILLUMINA ss2710664594 Nov 08, 2017 (151)
79 GNOMAD ss2731072761 Nov 08, 2017 (151)
80 GNOMAD ss2746200452 Nov 08, 2017 (151)
81 GNOMAD ss2751216390 Nov 08, 2017 (151)
82 AFFY ss2984843398 Nov 08, 2017 (151)
83 SWEGEN ss2986238938 Nov 08, 2017 (151)
84 ILLUMINA ss3021050292 Nov 08, 2017 (151)
85 BIOINF_KMB_FNS_UNIBA ss3023526914 Nov 08, 2017 (151)
86 TOPMED ss3067669931 Nov 08, 2017 (151)
87 CSHL ss3343301939 Nov 08, 2017 (151)
88 ILLUMINA ss3626017892 Oct 11, 2018 (152)
89 ILLUMINA ss3626017893 Oct 11, 2018 (152)
90 ILLUMINA ss3630511485 Oct 11, 2018 (152)
91 ILLUMINA ss3632879564 Oct 11, 2018 (152)
92 ILLUMINA ss3633573285 Oct 11, 2018 (152)
93 ILLUMINA ss3634304808 Oct 11, 2018 (152)
94 ILLUMINA ss3634304809 Oct 11, 2018 (152)
95 ILLUMINA ss3635267434 Oct 11, 2018 (152)
96 ILLUMINA ss3635981173 Oct 11, 2018 (152)
97 ILLUMINA ss3637017797 Oct 11, 2018 (152)
98 ILLUMINA ss3637735205 Oct 11, 2018 (152)
99 ILLUMINA ss3638889001 Oct 11, 2018 (152)
100 ILLUMINA ss3639441299 Oct 11, 2018 (152)
101 ILLUMINA ss3640012173 Oct 11, 2018 (152)
102 ILLUMINA ss3640012174 Oct 11, 2018 (152)
103 ILLUMINA ss3642749265 Oct 11, 2018 (152)
104 ILLUMINA ss3644479279 Oct 11, 2018 (152)
105 OMUKHERJEE_ADBS ss3646220530 Oct 11, 2018 (152)
106 ILLUMINA ss3651373089 Oct 11, 2018 (152)
107 ILLUMINA ss3653617259 Oct 11, 2018 (152)
108 EGCUT_WGS ss3654338938 Jul 12, 2019 (153)
109 EVA_DECODE ss3686092724 Jul 12, 2019 (153)
110 ILLUMINA ss3724993023 Jul 12, 2019 (153)
111 ACPOP ss3726760588 Jul 12, 2019 (153)
112 ILLUMINA ss3744605787 Jul 12, 2019 (153)
113 ILLUMINA ss3744605788 Jul 12, 2019 (153)
114 EVA ss3745786303 Jul 12, 2019 (153)
115 PAGE_CC ss3770782678 Jul 12, 2019 (153)
116 ILLUMINA ss3772107437 Jul 12, 2019 (153)
117 KHV_HUMAN_GENOMES ss3798806744 Jul 12, 2019 (153)
118 EVA ss3823553103 Apr 25, 2020 (154)
119 EVA ss3825551840 Apr 25, 2020 (154)
120 EVA ss3826006677 Apr 25, 2020 (154)
121 HGDP ss3847323430 Apr 25, 2020 (154)
122 SGDP_PRJ ss3848120388 Apr 25, 2020 (154)
123 KRGDB ss3892987896 Apr 25, 2020 (154)
124 FSA-LAB ss3983913885 Apr 25, 2021 (155)
125 FSA-LAB ss3983913886 Apr 25, 2021 (155)
126 EVA ss3984451549 Apr 25, 2021 (155)
127 EVA ss3984776587 Apr 25, 2021 (155)
128 EVA ss3986096303 Apr 25, 2021 (155)
129 EVA ss4016891489 Apr 25, 2021 (155)
130 TOPMED ss4438024108 Apr 25, 2021 (155)
131 TOMMO_GENOMICS ss5142303819 Apr 25, 2021 (155)
132 EVA ss5236863581 Apr 25, 2021 (155)
133 EVA ss5237259319 Apr 25, 2021 (155)
134 1000Genomes NC_000001.10 - 6524501 Oct 11, 2018 (152)
135 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 6524501 Oct 11, 2018 (152)
136 Genetic variation in the Estonian population NC_000001.10 - 6524501 Oct 11, 2018 (152)
137 ExAC NC_000001.10 - 6524501 Oct 11, 2018 (152)
138 FINRISK NC_000001.10 - 6524501 Apr 25, 2020 (154)
139 The Danish reference pan genome NC_000001.10 - 6524501 Apr 25, 2020 (154)
140 gnomAD - Genomes NC_000001.11 - 6464441 Apr 25, 2021 (155)
141 gnomAD - Exomes NC_000001.10 - 6524501 Jul 12, 2019 (153)
142 GO Exome Sequencing Project NC_000001.10 - 6524501 Oct 11, 2018 (152)
143 Genome of the Netherlands Release 5 NC_000001.10 - 6524501 Apr 25, 2020 (154)
144 HGDP-CEPH-db Supplement 1 NC_000001.9 - 6447088 Apr 25, 2020 (154)
145 HapMap NC_000001.11 - 6464441 Apr 25, 2020 (154)
146 KOREAN population from KRGDB NC_000001.10 - 6524501 Apr 25, 2020 (154)
147 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 6524501 Apr 25, 2020 (154)
148 Northern Sweden NC_000001.10 - 6524501 Jul 12, 2019 (153)
149 The PAGE Study NC_000001.11 - 6464441 Jul 12, 2019 (153)
150 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 6524501 Apr 25, 2021 (155)
151 CNV burdens in cranial meningiomas NC_000001.10 - 6524501 Apr 25, 2021 (155)
152 Qatari NC_000001.10 - 6524501 Apr 25, 2020 (154)
153 SGDP_PRJ NC_000001.10 - 6524501 Apr 25, 2020 (154)
154 Siberian NC_000001.10 - 6524501 Apr 25, 2020 (154)
155 8.3KJPN NC_000001.10 - 6524501 Apr 25, 2021 (155)
156 TopMed NC_000001.11 - 6464441 Apr 25, 2021 (155)
157 UK 10K study - Twins NC_000001.10 - 6524501 Oct 11, 2018 (152)
158 ALFA NC_000001.11 - 6464441 Apr 25, 2021 (155)
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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)
rs60621941 May 26, 2008 (130)
rs386521323 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638889001, ss3639441299 NC_000001.8:6458766:T:C NC_000001.11:6464440:T:C (self)
1322, ss160005679, ss197965733, ss205416149, ss210460614, ss217314398, ss217405832, ss217410490, ss217410980, ss479599007, ss491583249, ss825369635, ss1584178929, ss1712308793, ss3642749265, ss3847323430 NC_000001.9:6447087:T:C NC_000001.11:6464440:T:C (self)
213467, 106257, 77186, 4448945, 653, 1377222, 87319, 11835, 46420, 165290, 3109, 45453, 2514, 849, 60139, 137368, 34616, 273126, 106257, ss218218073, ss230414449, ss341928664, ss479603744, ss480088465, ss484598228, ss489717684, ss491285326, ss536725480, ss553757161, ss647552978, ss778391737, ss780902421, ss782745937, ss783589606, ss783712775, ss831997963, ss832703102, ss833293791, ss833846816, ss974432904, ss974820724, ss1067415443, ss1067645522, ss1289542636, ss1425701806, ss1573870589, ss1584004192, ss1599475882, ss1642469915, ss1685271936, ss1710886357, ss1751929344, ss1793836951, ss1918018209, ss1958237404, ss2019524941, ss2147518262, ss2321912269, ss2632472444, ss2697413660, ss2710664594, ss2731072761, ss2746200452, ss2751216390, ss2984843398, ss2986238938, ss3021050292, ss3343301939, ss3626017892, ss3626017893, ss3630511485, ss3632879564, ss3633573285, ss3634304808, ss3634304809, ss3635267434, ss3635981173, ss3637017797, ss3637735205, ss3640012173, ss3640012174, ss3644479279, ss3646220530, ss3651373089, ss3653617259, ss3654338938, ss3726760588, ss3744605787, ss3744605788, ss3745786303, ss3772107437, ss3823553103, ss3825551840, ss3826006677, ss3848120388, ss3892987896, ss3983913885, ss3983913886, ss3984451549, ss3984776587, ss3986096303, ss4016891489, ss5142303819, ss5237259319 NC_000001.10:6524500:T:C NC_000001.11:6464440:T:C (self)
1469452, 7788, 4147, 1021464, 1630443, 11814490565, ss2159755136, ss3023526914, ss3067669931, ss3686092724, ss3724993023, ss3770782678, ss3798806744, ss4438024108, ss5236863581 NC_000001.11:6464440:T:C NC_000001.11:6464440:T:C (self)
ss17329114, ss20495520 NT_021937.16:651559:T:C NC_000001.11:6464440:T:C (self)
ss48420538, ss65730545, ss66551382, ss66958214, ss67121988, ss68757598, ss70400327, ss70457401, ss70543417, ss71075835, ss75119488, ss85144639, ss86341804, ss121508975, ss153066395, ss159190621, ss159695902, ss161267229, ss169966090, ss171590828 NT_021937.19:2529232:T:C NC_000001.11:6464440:T:C (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.

No publications for rs11800462

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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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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.post596+ae089ad