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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.

rs1129424

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:23068800 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.316778 (83848/264690, TOPMED)
G=0.319973 (75106/234726, GnomAD_exome)
G=0.383082 (89517/233676, ALFA) (+ 22 more)
G=0.325315 (45561/140052, GnomAD)
G=0.298546 (30481/102098, ExAC)
G=0.23510 (18469/78558, PAGE_STUDY)
G=0.09219 (2605/28256, 14KJPN)
G=0.09339 (1565/16758, 8.3KJPN)
G=0.34627 (4487/12958, GO-ESP)
G=0.2537 (1625/6404, 1000G_30x)
G=0.2506 (1255/5008, 1000G)
G=0.3279 (1469/4480, Estonian)
G=0.4102 (1581/3854, ALSPAC)
G=0.4051 (1502/3708, TWINSUK)
G=0.1135 (332/2926, KOREAN)
G=0.1091 (197/1806, Korea1K)
G=0.091 (72/792, PRJEB37584)
G=0.337 (202/600, NorthernSweden)
G=0.097 (58/600, Vietnamese)
G=0.171 (86/504, SGDP_PRJ)
G=0.332 (97/292, FINRISK)
G=0.421 (91/216, Qatari)
G=0.246 (29/118, HapMap)
G=0.19 (10/54, Siberian)
G=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TNFRSF10B : Missense Variant
LOC286059 : Intron 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 233890 G=0.383103 A=0.616897
European Sub 194724 G=0.404542 A=0.595458
African Sub 6534 G=0.2384 A=0.7616
African Others Sub 242 G=0.169 A=0.831
African American Sub 6292 G=0.2411 A=0.7589
Asian Sub 6634 G=0.1091 A=0.8909
East Asian Sub 4750 G=0.1080 A=0.8920
Other Asian Sub 1884 G=0.1120 A=0.8880
Latin American 1 Sub 1222 G=0.3412 A=0.6588
Latin American 2 Sub 5256 G=0.2262 A=0.7738
South Asian Sub 338 G=0.346 A=0.654
Other Sub 19182 G=0.35580 A=0.64420


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 G=0.316778 A=0.683222
gnomAD - Exomes Global Study-wide 234726 G=0.319973 A=0.680027
gnomAD - Exomes European Sub 124070 G=0.386935 A=0.613065
gnomAD - Exomes Asian Sub 47528 G=0.24104 A=0.75896
gnomAD - Exomes American Sub 33672 G=0.20545 A=0.79455
gnomAD - Exomes African Sub 14058 G=0.22628 A=0.77372
gnomAD - Exomes Ashkenazi Jewish Sub 9646 G=0.3554 A=0.6446
gnomAD - Exomes Other Sub 5752 G=0.3679 A=0.6321
Allele Frequency Aggregator Total Global 233676 G=0.383082 A=0.616918
Allele Frequency Aggregator European Sub 194544 G=0.404515 A=0.595485
Allele Frequency Aggregator Other Sub 19162 G=0.35581 A=0.64419
Allele Frequency Aggregator Asian Sub 6634 G=0.1091 A=0.8909
Allele Frequency Aggregator African Sub 6520 G=0.2387 A=0.7613
Allele Frequency Aggregator Latin American 2 Sub 5256 G=0.2262 A=0.7738
Allele Frequency Aggregator Latin American 1 Sub 1222 G=0.3412 A=0.6588
Allele Frequency Aggregator South Asian Sub 338 G=0.346 A=0.654
gnomAD - Genomes Global Study-wide 140052 G=0.325315 A=0.674685
gnomAD - Genomes European Sub 75856 G=0.39164 A=0.60836
gnomAD - Genomes African Sub 41942 G=0.23466 A=0.76534
gnomAD - Genomes American Sub 13662 G=0.28012 A=0.71988
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.3593 A=0.6407
gnomAD - Genomes East Asian Sub 3122 G=0.0964 A=0.9036
gnomAD - Genomes Other Sub 2150 G=0.3209 A=0.6791
ExAC Global Study-wide 102098 G=0.298546 A=0.701454
ExAC Europe Sub 59718 G=0.35110 A=0.64890
ExAC Asian Sub 23270 G=0.24280 A=0.75720
ExAC American Sub 10368 G=0.18509 A=0.81491
ExAC African Sub 8020 G=0.2153 A=0.7847
ExAC Other Sub 722 G=0.302 A=0.698
The PAGE Study Global Study-wide 78558 G=0.23510 A=0.76490
The PAGE Study AfricanAmerican Sub 32428 G=0.23578 A=0.76422
The PAGE Study Mexican Sub 10802 G=0.22857 A=0.77143
The PAGE Study Asian Sub 8310 G=0.0943 A=0.9057
The PAGE Study PuertoRican Sub 7904 G=0.3202 A=0.6798
The PAGE Study NativeHawaiian Sub 4522 G=0.1681 A=0.8319
The PAGE Study Cuban Sub 4228 G=0.3531 A=0.6469
The PAGE Study Dominican Sub 3826 G=0.2961 A=0.7039
The PAGE Study CentralAmerican Sub 2448 G=0.2165 A=0.7835
The PAGE Study SouthAmerican Sub 1980 G=0.2313 A=0.7687
The PAGE Study NativeAmerican Sub 1260 G=0.3222 A=0.6778
The PAGE Study SouthAsian Sub 850 G=0.305 A=0.695
14KJPN JAPANESE Study-wide 28256 G=0.09219 A=0.90781
8.3KJPN JAPANESE Study-wide 16758 G=0.09339 A=0.90661
GO Exome Sequencing Project Global Study-wide 12958 G=0.34627 A=0.65373
GO Exome Sequencing Project European American Sub 8564 G=0.3951 A=0.6049
GO Exome Sequencing Project African American Sub 4394 G=0.2510 A=0.7490
1000Genomes_30x Global Study-wide 6404 G=0.2537 A=0.7463
1000Genomes_30x African Sub 1786 G=0.2273 A=0.7727
1000Genomes_30x Europe Sub 1266 G=0.4202 A=0.5798
1000Genomes_30x South Asian Sub 1202 G=0.2837 A=0.7163
1000Genomes_30x East Asian Sub 1170 G=0.0897 A=0.9103
1000Genomes_30x American Sub 980 G=0.246 A=0.754
1000Genomes Global Study-wide 5008 G=0.2506 A=0.7494
1000Genomes African Sub 1322 G=0.2247 A=0.7753
1000Genomes East Asian Sub 1008 G=0.0893 A=0.9107
1000Genomes Europe Sub 1006 G=0.4076 A=0.5924
1000Genomes South Asian Sub 978 G=0.290 A=0.710
1000Genomes American Sub 694 G=0.251 A=0.749
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3279 A=0.6721
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4102 A=0.5898
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4051 A=0.5949
KOREAN population from KRGDB KOREAN Study-wide 2926 G=0.1135 A=0.8865
Korean Genome Project KOREAN Study-wide 1806 G=0.1091 A=0.8909
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.091 A=0.909
CNV burdens in cranial meningiomas CRM Sub 792 G=0.091 A=0.909
Northern Sweden ACPOP Study-wide 600 G=0.337 A=0.663
A Vietnamese Genetic Variation Database Global Study-wide 600 G=0.097 A=0.903
SGDP_PRJ Global Study-wide 504 G=0.171 A=0.829
FINRISK Finnish from FINRISK project Study-wide 292 G=0.332 A=0.668
Qatari Global Study-wide 216 G=0.421 A=0.579
HapMap Global Study-wide 118 G=0.246 A=0.754
HapMap African Sub 118 G=0.246 A=0.754
Siberian Global Study-wide 54 G=0.19 A=0.81
The Danish reference pan genome Danish Study-wide 40 G=0.33 A=0.68
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 8 NC_000008.11:g.23068800G>A
GRCh37.p13 chr 8 NC_000008.10:g.22926313G>A
TNFRSF10B RefSeqGene NG_012145.1:g.5388C>T
LOC111255642 genomic region NG_055594.1:g.2491G>A
Gene: TNFRSF10B, TNF receptor superfamily member 10b (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TNFRSF10B transcript variant 1 NM_003842.5:c.95C>T P [CCC] > L [CTC] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 10B isoform 1 precursor NP_003833.4:p.Pro32Leu P (Pro) > L (Leu) Missense Variant
TNFRSF10B transcript variant 2 NM_147187.3:c.95C>T P [CCC] > L [CTC] Coding Sequence Variant
tumor necrosis factor receptor superfamily member 10B isoform 2 precursor NP_671716.2:p.Pro32Leu P (Pro) > L (Leu) Missense Variant
TNFRSF10B transcript variant 3 NR_027140.2:n.232C>T N/A Non Coding Transcript Variant
Gene: LOC286059, TNF receptor superfamily member 10d pseudogene (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TNFRSF10B-AS1 transcript NR_038873.1:n. N/A Intron 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 G= A
GRCh38.p14 chr 8 NC_000008.11:g.23068800= NC_000008.11:g.23068800G>A
GRCh37.p13 chr 8 NC_000008.10:g.22926313= NC_000008.10:g.22926313G>A
TNFRSF10B RefSeqGene NG_012145.1:g.5388= NG_012145.1:g.5388C>T
TNFRSF10B transcript variant 1 NM_003842.5:c.95= NM_003842.5:c.95C>T
TNFRSF10B transcript variant 1 NM_003842.4:c.95= NM_003842.4:c.95C>T
TNFRSF10B transcript variant 2 NM_147187.3:c.95= NM_147187.3:c.95C>T
TNFRSF10B transcript variant 2 NM_147187.2:c.95= NM_147187.2:c.95C>T
TNFRSF10B transcript variant 3 NR_027140.2:n.232= NR_027140.2:n.232C>T
TNFRSF10B transcript variant 3 NR_027140.1:n.388= NR_027140.1:n.388C>T
LOC111255642 genomic region NG_055594.1:g.2491= NG_055594.1:g.2491G>A
tumor necrosis factor receptor superfamily member 10B isoform 1 precursor NP_003833.4:p.Pro32= NP_003833.4:p.Pro32Leu
tumor necrosis factor receptor superfamily member 10B isoform 2 precursor NP_671716.2:p.Pro32= NP_671716.2:p.Pro32Leu
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#.

135 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1519186 Oct 13, 2000 (86)
2 HGBASE ss2425953 Nov 14, 2000 (102)
3 LEE ss4411253 May 29, 2002 (106)
4 WI_SSAHASNP ss11948146 Jul 11, 2003 (116)
5 CGAP-GAI ss16260656 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss17225051 Feb 27, 2004 (120)
7 SSAHASNP ss22697581 Apr 05, 2004 (121)
8 MGC_GENOME_DIFF ss28509660 Sep 24, 2004 (126)
9 HGSV ss77637461 Dec 07, 2007 (129)
10 HGSV ss80272383 Dec 14, 2007 (130)
11 HGSV ss83588255 Dec 14, 2007 (130)
12 HGSV ss84423851 Dec 14, 2007 (130)
13 BCMHGSC_JDW ss93854751 Mar 25, 2008 (129)
14 HUMANGENOME_JCVI ss97859295 Feb 04, 2009 (130)
15 BGI ss105606014 Feb 04, 2009 (130)
16 1000GENOMES ss115133843 Jan 25, 2009 (130)
17 ILLUMINA-UK ss115868663 Feb 14, 2009 (130)
18 ENSEMBL ss134452392 Dec 01, 2009 (131)
19 ENSEMBL ss143333920 Dec 01, 2009 (131)
20 GMI ss156143409 Dec 01, 2009 (131)
21 SEATTLESEQ ss159716626 Dec 01, 2009 (131)
22 ILLUMINA ss159977004 Dec 01, 2009 (131)
23 BUSHMAN ss198919017 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss206597816 Jul 04, 2010 (132)
25 1000GENOMES ss223599855 Jul 14, 2010 (132)
26 1000GENOMES ss234362774 Jul 15, 2010 (132)
27 1000GENOMES ss241235194 Jul 15, 2010 (132)
28 BL ss254187785 May 09, 2011 (134)
29 GMI ss279732988 May 04, 2012 (137)
30 GMI ss285811980 Apr 25, 2013 (138)
31 PJP ss294238930 May 09, 2011 (134)
32 NHLBI-ESP ss342254720 May 09, 2011 (134)
33 ILLUMINA ss479973785 Sep 08, 2015 (146)
34 1000GENOMES ss490961832 May 04, 2012 (137)
35 EXOME_CHIP ss491411395 May 04, 2012 (137)
36 CLINSEQ_SNP ss491922557 May 04, 2012 (137)
37 ILLUMINA ss535839570 Sep 08, 2015 (146)
38 TISHKOFF ss560617722 Apr 25, 2013 (138)
39 SSMP ss655052906 Apr 25, 2013 (138)
40 ILLUMINA ss780868309 Sep 08, 2015 (146)
41 ILLUMINA ss783553290 Sep 08, 2015 (146)
42 JMKIDD_LAB ss974467550 Aug 21, 2014 (142)
43 EVA-GONL ss985299484 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067496307 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1075360275 Aug 21, 2014 (142)
46 1000GENOMES ss1329020731 Aug 21, 2014 (142)
47 DDI ss1431448970 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1582604470 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584057575 Apr 01, 2015 (144)
50 EVA_DECODE ss1594891077 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1620191402 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1663185435 Apr 01, 2015 (144)
53 EVA_EXAC ss1689128412 Apr 01, 2015 (144)
54 ILLUMINA ss1752725015 Sep 08, 2015 (146)
55 HAMMER_LAB ss1805444346 Sep 08, 2015 (146)
56 ILLUMINA ss1917826744 Feb 12, 2016 (147)
57 WEILL_CORNELL_DGM ss1928589552 Feb 12, 2016 (147)
58 ILLUMINA ss1946232327 Feb 12, 2016 (147)
59 ILLUMINA ss1959096835 Feb 12, 2016 (147)
60 GENOMED ss1970935866 Jul 19, 2016 (147)
61 JJLAB ss2024995070 Sep 14, 2016 (149)
62 USC_VALOUEV ss2153216397 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2301511409 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2626981577 Nov 08, 2017 (151)
65 ILLUMINA ss2635180940 Nov 08, 2017 (151)
66 GRF ss2708977709 Nov 08, 2017 (151)
67 GNOMAD ss2737048296 Nov 08, 2017 (151)
68 GNOMAD ss2748015916 Nov 08, 2017 (151)
69 GNOMAD ss2864381358 Nov 08, 2017 (151)
70 AFFY ss2985434028 Nov 08, 2017 (151)
71 SWEGEN ss3002844578 Nov 08, 2017 (151)
72 EVA_SAMSUNG_MC ss3023063918 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3026288101 Nov 08, 2017 (151)
74 CSHL ss3348092562 Nov 08, 2017 (151)
75 ILLUMINA ss3630020102 Oct 12, 2018 (152)
76 ILLUMINA ss3630020103 Oct 12, 2018 (152)
77 ILLUMINA ss3635163665 Oct 12, 2018 (152)
78 ILLUMINA ss3636900665 Oct 12, 2018 (152)
79 ILLUMINA ss3640870955 Oct 12, 2018 (152)
80 ILLUMINA ss3644965500 Oct 12, 2018 (152)
81 OMUKHERJEE_ADBS ss3646373450 Oct 12, 2018 (152)
82 URBANLAB ss3648873725 Oct 12, 2018 (152)
83 ILLUMINA ss3654195903 Oct 12, 2018 (152)
84 EGCUT_WGS ss3670527232 Jul 13, 2019 (153)
85 EVA_DECODE ss3721607587 Jul 13, 2019 (153)
86 ACPOP ss3735488986 Jul 13, 2019 (153)
87 ILLUMINA ss3744578225 Jul 13, 2019 (153)
88 ILLUMINA ss3745463435 Jul 13, 2019 (153)
89 EVA ss3767751379 Jul 13, 2019 (153)
90 PAGE_CC ss3771430959 Jul 13, 2019 (153)
91 ILLUMINA ss3772956015 Jul 13, 2019 (153)
92 PACBIO ss3786093364 Jul 13, 2019 (153)
93 PACBIO ss3791358898 Jul 13, 2019 (153)
94 PACBIO ss3796240080 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3810912638 Jul 13, 2019 (153)
96 EVA ss3824355240 Apr 26, 2020 (154)
97 EVA ss3825525074 Apr 26, 2020 (154)
98 EVA ss3825540796 Apr 26, 2020 (154)
99 EVA ss3825737936 Apr 26, 2020 (154)
100 EVA ss3831067504 Apr 26, 2020 (154)
101 SGDP_PRJ ss3869490115 Apr 26, 2020 (154)
102 KRGDB ss3916921797 Apr 26, 2020 (154)
103 KOGIC ss3963455088 Apr 26, 2020 (154)
104 FSA-LAB ss3984394852 Apr 26, 2021 (155)
105 FSA-LAB ss3984394853 Apr 26, 2021 (155)
106 EVA ss3984602723 Apr 26, 2021 (155)
107 EVA ss3986043215 Apr 26, 2021 (155)
108 EVA ss3986417069 Apr 26, 2021 (155)
109 TOPMED ss4778979621 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5187768441 Apr 26, 2021 (155)
111 EVA ss5237041425 Apr 26, 2021 (155)
112 EVA ss5237200597 Apr 26, 2021 (155)
113 EVA ss5237651087 Oct 14, 2022 (156)
114 1000G_HIGH_COVERAGE ss5276421164 Oct 14, 2022 (156)
115 TRAN_CS_UWATERLOO ss5314422865 Oct 14, 2022 (156)
116 EVA ss5315319229 Oct 14, 2022 (156)
117 EVA ss5379812875 Oct 14, 2022 (156)
118 HUGCELL_USP ss5473063804 Oct 14, 2022 (156)
119 1000G_HIGH_COVERAGE ss5566390792 Oct 14, 2022 (156)
120 EVA ss5623943336 Oct 14, 2022 (156)
121 EVA ss5624176433 Oct 14, 2022 (156)
122 SANFORD_IMAGENETICS ss5644974836 Oct 14, 2022 (156)
123 TOMMO_GENOMICS ss5729419905 Oct 14, 2022 (156)
124 EVA ss5800059269 Oct 14, 2022 (156)
125 EVA ss5800145977 Oct 14, 2022 (156)
126 YY_MCH ss5809538250 Oct 14, 2022 (156)
127 EVA ss5830258982 Oct 14, 2022 (156)
128 EVA ss5848170694 Oct 14, 2022 (156)
129 EVA ss5848703172 Oct 14, 2022 (156)
130 EVA ss5856297282 Oct 14, 2022 (156)
131 EVA ss5888129787 Oct 14, 2022 (156)
132 EVA ss5936538641 Oct 14, 2022 (156)
133 EVA ss5974158839 Oct 14, 2022 (156)
134 EVA ss5980494146 Oct 14, 2022 (156)
135 EVA ss5981248593 Oct 14, 2022 (156)
136 1000Genomes NC_000008.10 - 22926313 Oct 12, 2018 (152)
137 1000Genomes_30x NC_000008.11 - 23068800 Oct 14, 2022 (156)
138 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 22926313 Oct 12, 2018 (152)
139 Genetic variation in the Estonian population NC_000008.10 - 22926313 Oct 12, 2018 (152)
140 ExAC NC_000008.10 - 22926313 Oct 12, 2018 (152)
141 FINRISK NC_000008.10 - 22926313 Apr 26, 2020 (154)
142 The Danish reference pan genome NC_000008.10 - 22926313 Apr 26, 2020 (154)
143 gnomAD - Genomes NC_000008.11 - 23068800 Apr 26, 2021 (155)
144 gnomAD - Exomes NC_000008.10 - 22926313 Jul 13, 2019 (153)
145 GO Exome Sequencing Project NC_000008.10 - 22926313 Oct 12, 2018 (152)
146 HapMap NC_000008.11 - 23068800 Apr 26, 2020 (154)
147 KOREAN population from KRGDB NC_000008.10 - 22926313 Apr 26, 2020 (154)
148 Korean Genome Project NC_000008.11 - 23068800 Apr 26, 2020 (154)
149 Northern Sweden NC_000008.10 - 22926313 Jul 13, 2019 (153)
150 The PAGE Study NC_000008.11 - 23068800 Jul 13, 2019 (153)
151 CNV burdens in cranial meningiomas NC_000008.10 - 22926313 Apr 26, 2021 (155)
152 Qatari NC_000008.10 - 22926313 Apr 26, 2020 (154)
153 SGDP_PRJ NC_000008.10 - 22926313 Apr 26, 2020 (154)
154 Siberian NC_000008.10 - 22926313 Apr 26, 2020 (154)
155 8.3KJPN NC_000008.10 - 22926313 Apr 26, 2021 (155)
156 14KJPN NC_000008.11 - 23068800 Oct 14, 2022 (156)
157 TopMed NC_000008.11 - 23068800 Apr 26, 2021 (155)
158 UK 10K study - Twins NC_000008.10 - 22926313 Oct 12, 2018 (152)
159 A Vietnamese Genetic Variation Database NC_000008.10 - 22926313 Jul 13, 2019 (153)
160 ALFA NC_000008.11 - 23068800 Apr 26, 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)
rs1805039 Jan 04, 2002 (102)
rs3187295 Jul 03, 2002 (106)
rs17088926 Oct 08, 2004 (123)
rs17855358 Mar 10, 2006 (126)
rs57417067 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77637461, ss80272383, ss83588255, ss84423851, ss93854751, ss115133843, ss115868663, ss198919017, ss206597816, ss254187785, ss279732988, ss285811980, ss294238930, ss491922557, ss1594891077, ss2635180940 NC_000008.9:22982257:G:A NC_000008.11:23068799:G:A (self)
41118320, 22859336, 16265480, 9223117, 54036, 8769408, 6217426, 813087, 24099191, 8773851, 152159, 10631482, 21507095, 5732751, 45737748, 22859336, 5096690, ss223599855, ss234362774, ss241235194, ss342254720, ss479973785, ss490961832, ss491411395, ss535839570, ss560617722, ss655052906, ss780868309, ss783553290, ss974467550, ss985299484, ss1067496307, ss1075360275, ss1329020731, ss1431448970, ss1582604470, ss1584057575, ss1620191402, ss1663185435, ss1689128412, ss1752725015, ss1805444346, ss1917826744, ss1928589552, ss1946232327, ss1959096835, ss1970935866, ss2024995070, ss2153216397, ss2626981577, ss2708977709, ss2737048296, ss2748015916, ss2864381358, ss2985434028, ss3002844578, ss3023063918, ss3348092562, ss3630020102, ss3630020103, ss3635163665, ss3636900665, ss3640870955, ss3644965500, ss3646373450, ss3654195903, ss3670527232, ss3735488986, ss3744578225, ss3745463435, ss3767751379, ss3772956015, ss3786093364, ss3791358898, ss3796240080, ss3824355240, ss3825525074, ss3825540796, ss3825737936, ss3831067504, ss3869490115, ss3916921797, ss3984394852, ss3984394853, ss3984602723, ss3986043215, ss3986417069, ss5187768441, ss5315319229, ss5379812875, ss5623943336, ss5624176433, ss5644974836, ss5800059269, ss5800145977, ss5830258982, ss5848170694, ss5848703172, ss5936538641, ss5974158839, ss5980494146, ss5981248593 NC_000008.10:22926312:G:A NC_000008.11:23068799:G:A (self)
53916727, 289939527, 3585974, 19833089, 652428, 63257009, 616357181, 4787874876, ss2301511409, ss3026288101, ss3648873725, ss3721607587, ss3771430959, ss3810912638, ss3963455088, ss4778979621, ss5237041425, ss5237200597, ss5237651087, ss5276421164, ss5314422865, ss5473063804, ss5566390792, ss5729419905, ss5809538250, ss5856297282, ss5888129787 NC_000008.11:23068799:G:A NC_000008.11:23068799:G:A (self)
ss11948146 NT_023666.15:1300625:G:A NC_000008.11:23068799:G:A (self)
ss17225051, ss22697581 NT_023666.16:1300625:G:A NC_000008.11:23068799:G:A (self)
ss1519186, ss2425953, ss4411253, ss16260656, ss28509660, ss97859295, ss105606014, ss134452392, ss143333920, ss156143409, ss159716626, ss159977004 NT_167187.1:10784458:G:A NC_000008.11:23068799:G: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 rs1129424

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