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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.

rs16970881

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:21101951 (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
A=0.042528 (12528/294580, ALFA)
A=0.040610 (10749/264690, TOPMED)
A=0.034111 (4783/140220, GnomAD) (+ 21 more)
A=0.05215 (4103/78682, PAGE_STUDY)
A=0.22319 (6307/28258, 14KJPN)
A=0.22428 (3759/16760, 8.3KJPN)
A=0.0525 (336/6404, 1000G_30x)
A=0.0545 (273/5008, 1000G)
A=0.0268 (120/4480, Estonian)
A=0.0389 (150/3854, ALSPAC)
A=0.0343 (127/3708, TWINSUK)
A=0.2150 (630/2930, KOREAN)
A=0.0917 (191/2082, HGDP_Stanford)
A=0.0583 (110/1888, HapMap)
A=0.2107 (386/1832, Korea1K)
A=0.0511 (58/1136, Daghestan)
A=0.030 (30/998, GoNL)
A=0.230 (181/786, PRJEB37584)
A=0.037 (22/600, NorthernSweden)
A=0.074 (16/216, Qatari)
A=0.056 (12/214, Vietnamese)
G=0.46 (44/96, SGDP_PRJ)
A=0.09 (8/90, Ancient Sardinia)
G=0.38 (6/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DNAH3 : Intron Variant
Publications
1 citation
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 294580 G=0.957472 A=0.042528 0.917537 0.002594 0.07987 29
European Sub 263836 G=0.958800 A=0.041200 0.919685 0.002085 0.07823 7
African Sub 8380 G=0.9894 A=0.0106 0.978759 0.0 0.021241 0
African Others Sub 318 G=0.994 A=0.006 0.987421 0.0 0.012579 0
African American Sub 8062 G=0.9892 A=0.0108 0.978417 0.0 0.021583 0
Asian Sub 3940 G=0.8117 A=0.1883 0.66599 0.04264 0.291371 3
East Asian Sub 3194 G=0.7981 A=0.2019 0.641828 0.045711 0.312461 1
Other Asian Sub 746 G=0.870 A=0.130 0.769437 0.029491 0.201072 3
Latin American 1 Sub 1074 G=0.9534 A=0.0466 0.910615 0.003724 0.085661 0
Latin American 2 Sub 3158 G=0.9531 A=0.0469 0.907536 0.001267 0.091197 0
South Asian Sub 5224 G=0.9678 A=0.0322 0.938361 0.00268 0.058959 4
Other Sub 8968 G=0.9486 A=0.0514 0.899866 0.002676 0.097458 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 294580 G=0.957472 A=0.042528
Allele Frequency Aggregator European Sub 263836 G=0.958800 A=0.041200
Allele Frequency Aggregator Other Sub 8968 G=0.9486 A=0.0514
Allele Frequency Aggregator African Sub 8380 G=0.9894 A=0.0106
Allele Frequency Aggregator South Asian Sub 5224 G=0.9678 A=0.0322
Allele Frequency Aggregator Asian Sub 3940 G=0.8117 A=0.1883
Allele Frequency Aggregator Latin American 2 Sub 3158 G=0.9531 A=0.0469
Allele Frequency Aggregator Latin American 1 Sub 1074 G=0.9534 A=0.0466
TopMed Global Study-wide 264690 G=0.959390 A=0.040610
gnomAD - Genomes Global Study-wide 140220 G=0.965889 A=0.034111
gnomAD - Genomes European Sub 75934 G=0.96519 A=0.03481
gnomAD - Genomes African Sub 42032 G=0.98696 A=0.01304
gnomAD - Genomes American Sub 13650 G=0.94777 A=0.05223
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9308 A=0.0692
gnomAD - Genomes East Asian Sub 3130 G=0.8268 A=0.1732
gnomAD - Genomes Other Sub 2152 G=0.9503 A=0.0497
The PAGE Study Global Study-wide 78682 G=0.94785 A=0.05215
The PAGE Study AfricanAmerican Sub 32512 G=0.98625 A=0.01375
The PAGE Study Mexican Sub 10804 G=0.95141 A=0.04859
The PAGE Study Asian Sub 8318 G=0.7955 A=0.2045
The PAGE Study PuertoRican Sub 7914 G=0.9395 A=0.0605
The PAGE Study NativeHawaiian Sub 4530 G=0.9430 A=0.0570
The PAGE Study Cuban Sub 4230 G=0.9366 A=0.0634
The PAGE Study Dominican Sub 3828 G=0.9566 A=0.0434
The PAGE Study CentralAmerican Sub 2448 G=0.9620 A=0.0380
The PAGE Study SouthAmerican Sub 1982 G=0.9516 A=0.0484
The PAGE Study NativeAmerican Sub 1260 G=0.9643 A=0.0357
The PAGE Study SouthAsian Sub 856 G=0.971 A=0.029
14KJPN JAPANESE Study-wide 28258 G=0.77681 A=0.22319
8.3KJPN JAPANESE Study-wide 16760 G=0.77572 A=0.22428
1000Genomes_30x Global Study-wide 6404 G=0.9475 A=0.0525
1000Genomes_30x African Sub 1786 G=0.9916 A=0.0084
1000Genomes_30x Europe Sub 1266 G=0.9542 A=0.0458
1000Genomes_30x South Asian Sub 1202 G=0.9775 A=0.0225
1000Genomes_30x East Asian Sub 1170 G=0.8462 A=0.1538
1000Genomes_30x American Sub 980 G=0.943 A=0.057
1000Genomes Global Study-wide 5008 G=0.9455 A=0.0545
1000Genomes African Sub 1322 G=0.9909 A=0.0091
1000Genomes East Asian Sub 1008 G=0.8472 A=0.1528
1000Genomes Europe Sub 1006 G=0.9523 A=0.0477
1000Genomes South Asian Sub 978 G=0.982 A=0.018
1000Genomes American Sub 694 G=0.941 A=0.059
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9732 A=0.0268
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9611 A=0.0389
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9657 A=0.0343
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7850 A=0.2150
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.9083 A=0.0917
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.813 A=0.187
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.915 A=0.085
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.934 A=0.066
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.940 A=0.060
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.988 A=0.012
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.926 A=0.074
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.90 A=0.10
HapMap Global Study-wide 1888 G=0.9417 A=0.0583
HapMap American Sub 768 G=0.947 A=0.053
HapMap African Sub 690 G=0.983 A=0.017
HapMap Asian Sub 254 G=0.831 A=0.169
HapMap Europe Sub 176 G=0.920 A=0.080
Korean Genome Project KOREAN Study-wide 1832 G=0.7893 A=0.2107
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.9489 A=0.0511
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.963 A=0.037
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.924 A=0.076
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.902 A=0.098
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.935 A=0.065
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.97 A=0.03
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.94 A=0.06
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.970 A=0.030
CNV burdens in cranial meningiomas Global Study-wide 786 G=0.770 A=0.230
CNV burdens in cranial meningiomas CRM Sub 786 G=0.770 A=0.230
Northern Sweden ACPOP Study-wide 600 G=0.963 A=0.037
Qatari Global Study-wide 216 G=0.926 A=0.074
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.944 A=0.056
SGDP_PRJ Global Study-wide 96 G=0.46 A=0.54
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 90 G=0.91 A=0.09
Siberian Global Study-wide 16 G=0.38 A=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 16 NC_000016.10:g.21101951G>A
GRCh37.p13 chr 16 NC_000016.9:g.21113272G>A
DNAH3 RefSeqGene NG_052617.1:g.62491C>T
Gene: DNAH3, dynein axonemal heavy chain 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DNAH3 transcript variant 2 NM_001347886.2:c.2228+252…

NM_001347886.2:c.2228+2520C>T

N/A Intron Variant
DNAH3 transcript variant 1 NM_017539.2:c.2366+2520C>T N/A Intron Variant
DNAH3 transcript variant 3 NM_001394581.1:c. N/A Genic Downstream Transcript Variant
DNAH3 transcript variant X1 XM_011545882.3:c.2249+252…

XM_011545882.3:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X2 XM_011545883.1:c.2249+252…

XM_011545883.1:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X8 XM_011545885.4:c.2249+252…

XM_011545885.4:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X9 XM_011545886.3:c.1238+252…

XM_011545886.3:c.1238+2520C>T

N/A Intron Variant
DNAH3 transcript variant X4 XM_017023426.2:c.2249+252…

XM_017023426.2:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X5 XM_017023427.2:c.2006+252…

XM_017023427.2:c.2006+2520C>T

N/A Intron Variant
DNAH3 transcript variant X7 XM_017023428.2:c.2249+252…

XM_017023428.2:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X12 XM_017023429.2:c.2249+252…

XM_017023429.2:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X14 XM_017023431.2:c.2249+252…

XM_017023431.2:c.2249+2520C>T

N/A Intron Variant
DNAH3 transcript variant X15 XM_017023432.2:c.2408+252…

XM_017023432.2:c.2408+2520C>T

N/A Intron Variant
DNAH3 transcript variant X3 XM_047434348.1:c.2228+252…

XM_047434348.1:c.2228+2520C>T

N/A Intron Variant
DNAH3 transcript variant X6 XM_047434349.1:c.1985+252…

XM_047434349.1:c.1985+2520C>T

N/A Intron Variant
DNAH3 transcript variant X10 XM_011545888.2:c. N/A Genic Upstream Transcript Variant
DNAH3 transcript variant X11 XM_011545889.2:c. N/A Genic Upstream Transcript Variant
DNAH3 transcript variant X13 XM_017023430.2:c. N/A Genic 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 G= A
GRCh38.p14 chr 16 NC_000016.10:g.21101951= NC_000016.10:g.21101951G>A
GRCh37.p13 chr 16 NC_000016.9:g.21113272= NC_000016.9:g.21113272G>A
DNAH3 RefSeqGene NG_052617.1:g.62491= NG_052617.1:g.62491C>T
DNAH3 transcript variant 2 NM_001347886.2:c.2228+2520= NM_001347886.2:c.2228+2520C>T
DNAH3 transcript NM_017539.1:c.2366+2520= NM_017539.1:c.2366+2520C>T
DNAH3 transcript variant 1 NM_017539.2:c.2366+2520= NM_017539.2:c.2366+2520C>T
DNAH3 transcript variant X1 XM_011545882.3:c.2249+2520= XM_011545882.3:c.2249+2520C>T
DNAH3 transcript variant X2 XM_011545883.1:c.2249+2520= XM_011545883.1:c.2249+2520C>T
DNAH3 transcript variant X8 XM_011545885.4:c.2249+2520= XM_011545885.4:c.2249+2520C>T
DNAH3 transcript variant X9 XM_011545886.3:c.1238+2520= XM_011545886.3:c.1238+2520C>T
DNAH3 transcript variant X4 XM_017023426.2:c.2249+2520= XM_017023426.2:c.2249+2520C>T
DNAH3 transcript variant X5 XM_017023427.2:c.2006+2520= XM_017023427.2:c.2006+2520C>T
DNAH3 transcript variant X7 XM_017023428.2:c.2249+2520= XM_017023428.2:c.2249+2520C>T
DNAH3 transcript variant X12 XM_017023429.2:c.2249+2520= XM_017023429.2:c.2249+2520C>T
DNAH3 transcript variant X14 XM_017023431.2:c.2249+2520= XM_017023431.2:c.2249+2520C>T
DNAH3 transcript variant X15 XM_017023432.2:c.2408+2520= XM_017023432.2:c.2408+2520C>T
DNAH3 transcript variant X3 XM_047434348.1:c.2228+2520= XM_047434348.1:c.2228+2520C>T
DNAH3 transcript variant X6 XM_047434349.1:c.1985+2520= XM_047434349.1:c.1985+2520C>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#.

108 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23959786 Sep 20, 2004 (123)
2 ILLUMINA ss67162702 Nov 29, 2006 (127)
3 ILLUMINA ss67513183 Nov 29, 2006 (127)
4 ILLUMINA ss68167854 Dec 12, 2006 (127)
5 ILLUMINA ss70647391 May 26, 2008 (130)
6 ILLUMINA ss71202692 May 16, 2007 (127)
7 ILLUMINA ss75486887 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss85343918 Dec 15, 2007 (130)
9 ILLUMINA ss153587967 Dec 01, 2009 (131)
10 ILLUMINA ss159300557 Dec 01, 2009 (131)
11 ILLUMINA ss160404591 Dec 01, 2009 (131)
12 ILLUMINA ss172685581 Jul 04, 2010 (132)
13 BUSHMAN ss201541690 Jul 04, 2010 (132)
14 1000GENOMES ss243332246 Jul 15, 2010 (132)
15 GMI ss282470491 May 04, 2012 (137)
16 ILLUMINA ss480127257 May 04, 2012 (137)
17 ILLUMINA ss480136332 May 04, 2012 (137)
18 ILLUMINA ss480835331 Sep 08, 2015 (146)
19 ILLUMINA ss484861640 May 04, 2012 (137)
20 ILLUMINA ss536927020 Sep 08, 2015 (146)
21 SSMP ss660583182 Apr 25, 2013 (138)
22 ILLUMINA ss778448873 Sep 08, 2015 (146)
23 ILLUMINA ss782877247 Sep 08, 2015 (146)
24 ILLUMINA ss783841132 Sep 08, 2015 (146)
25 ILLUMINA ss832131516 Sep 08, 2015 (146)
26 ILLUMINA ss832812640 Jul 13, 2019 (153)
27 ILLUMINA ss833904462 Sep 08, 2015 (146)
28 EVA-GONL ss992369288 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1080547049 Aug 21, 2014 (142)
30 1000GENOMES ss1355720493 Aug 21, 2014 (142)
31 HAMMER_LAB ss1397712731 Sep 08, 2015 (146)
32 DDI ss1427804586 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1634178676 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1677172709 Apr 01, 2015 (144)
35 EVA_DECODE ss1696402868 Apr 01, 2015 (144)
36 EVA_SVP ss1713531730 Apr 01, 2015 (144)
37 ILLUMINA ss1752186035 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1935791000 Feb 12, 2016 (147)
39 ILLUMINA ss1946411382 Feb 12, 2016 (147)
40 ILLUMINA ss1959666924 Feb 12, 2016 (147)
41 JJLAB ss2028682669 Sep 14, 2016 (149)
42 USC_VALOUEV ss2157093319 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2211241657 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2628834530 Nov 08, 2017 (151)
45 ILLUMINA ss2633304519 Nov 08, 2017 (151)
46 GRF ss2701596962 Nov 08, 2017 (151)
47 ILLUMINA ss2710829781 Nov 08, 2017 (151)
48 GNOMAD ss2941312140 Nov 08, 2017 (151)
49 SWEGEN ss3014217489 Nov 08, 2017 (151)
50 ILLUMINA ss3021692654 Nov 08, 2017 (151)
51 ILLUMINA ss3625688870 Oct 12, 2018 (152)
52 ILLUMINA ss3627496607 Oct 12, 2018 (152)
53 ILLUMINA ss3631291909 Oct 12, 2018 (152)
54 ILLUMINA ss3633116989 Oct 12, 2018 (152)
55 ILLUMINA ss3633822804 Oct 12, 2018 (152)
56 ILLUMINA ss3634636296 Oct 12, 2018 (152)
57 ILLUMINA ss3635511198 Oct 12, 2018 (152)
58 ILLUMINA ss3636326758 Oct 12, 2018 (152)
59 ILLUMINA ss3637262614 Oct 12, 2018 (152)
60 ILLUMINA ss3638118192 Oct 12, 2018 (152)
61 ILLUMINA ss3639071354 Oct 12, 2018 (152)
62 ILLUMINA ss3639844694 Oct 12, 2018 (152)
63 ILLUMINA ss3640343615 Oct 12, 2018 (152)
64 ILLUMINA ss3641069408 Oct 12, 2018 (152)
65 ILLUMINA ss3641364906 Oct 12, 2018 (152)
66 ILLUMINA ss3643099839 Oct 12, 2018 (152)
67 ILLUMINA ss3643894532 Oct 12, 2018 (152)
68 ILLUMINA ss3644664459 Oct 12, 2018 (152)
69 ILLUMINA ss3652099145 Oct 12, 2018 (152)
70 EGCUT_WGS ss3681311720 Jul 13, 2019 (153)
71 EVA_DECODE ss3699005574 Jul 13, 2019 (153)
72 ILLUMINA ss3725551353 Jul 13, 2019 (153)
73 ACPOP ss3741410657 Jul 13, 2019 (153)
74 ILLUMINA ss3744139558 Jul 13, 2019 (153)
75 ILLUMINA ss3744936741 Jul 13, 2019 (153)
76 EVA ss3753787123 Jul 13, 2019 (153)
77 PAGE_CC ss3771871532 Jul 13, 2019 (153)
78 ILLUMINA ss3772435092 Jul 13, 2019 (153)
79 PACBIO ss3788004586 Jul 13, 2019 (153)
80 PACBIO ss3792994508 Jul 13, 2019 (153)
81 PACBIO ss3797879461 Jul 13, 2019 (153)
82 KHV_HUMAN_GENOMES ss3819082233 Jul 13, 2019 (153)
83 EVA ss3840865635 Apr 27, 2020 (154)
84 EVA ss3846356422 Apr 27, 2020 (154)
85 HGDP ss3847542063 Apr 27, 2020 (154)
86 SGDP_PRJ ss3884138658 Apr 27, 2020 (154)
87 KRGDB ss3933459778 Apr 27, 2020 (154)
88 KOGIC ss3977259240 Apr 27, 2020 (154)
89 EVA ss3984711095 Apr 27, 2021 (155)
90 EVA ss3985750651 Apr 27, 2021 (155)
91 EVA ss4017730113 Apr 27, 2021 (155)
92 TOPMED ss5010607617 Apr 27, 2021 (155)
93 TOMMO_GENOMICS ss5218845878 Apr 27, 2021 (155)
94 1000G_HIGH_COVERAGE ss5300445911 Oct 17, 2022 (156)
95 EVA ss5315830366 Oct 17, 2022 (156)
96 EVA ss5422854193 Oct 17, 2022 (156)
97 HUGCELL_USP ss5493916147 Oct 17, 2022 (156)
98 EVA ss5511586559 Oct 17, 2022 (156)
99 1000G_HIGH_COVERAGE ss5602820940 Oct 17, 2022 (156)
100 SANFORD_IMAGENETICS ss5658640939 Oct 17, 2022 (156)
101 TOMMO_GENOMICS ss5773448072 Oct 17, 2022 (156)
102 EVA ss5799954782 Oct 17, 2022 (156)
103 YY_MCH ss5815835713 Oct 17, 2022 (156)
104 EVA ss5846222546 Oct 17, 2022 (156)
105 EVA ss5847766625 Oct 17, 2022 (156)
106 EVA ss5851525175 Oct 17, 2022 (156)
107 EVA ss5898602631 Oct 17, 2022 (156)
108 EVA ss5950061726 Oct 17, 2022 (156)
109 1000Genomes NC_000016.9 - 21113272 Oct 12, 2018 (152)
110 1000Genomes_30x NC_000016.10 - 21101951 Oct 17, 2022 (156)
111 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 21113272 Oct 12, 2018 (152)
112 Genome-wide autozygosity in Daghestan NC_000016.8 - 21020773 Apr 27, 2020 (154)
113 Genetic variation in the Estonian population NC_000016.9 - 21113272 Oct 12, 2018 (152)
114 gnomAD - Genomes NC_000016.10 - 21101951 Apr 27, 2021 (155)
115 Genome of the Netherlands Release 5 NC_000016.9 - 21113272 Apr 27, 2020 (154)
116 HGDP-CEPH-db Supplement 1 NC_000016.8 - 21020773 Apr 27, 2020 (154)
117 HapMap NC_000016.10 - 21101951 Apr 27, 2020 (154)
118 KOREAN population from KRGDB NC_000016.9 - 21113272 Apr 27, 2020 (154)
119 Korean Genome Project NC_000016.10 - 21101951 Apr 27, 2020 (154)
120 Northern Sweden NC_000016.9 - 21113272 Jul 13, 2019 (153)
121 The PAGE Study NC_000016.10 - 21101951 Jul 13, 2019 (153)
122 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 21113272 Apr 27, 2021 (155)
123 CNV burdens in cranial meningiomas NC_000016.9 - 21113272 Apr 27, 2021 (155)
124 Qatari NC_000016.9 - 21113272 Apr 27, 2020 (154)
125 SGDP_PRJ NC_000016.9 - 21113272 Apr 27, 2020 (154)
126 Siberian NC_000016.9 - 21113272 Apr 27, 2020 (154)
127 8.3KJPN NC_000016.9 - 21113272 Apr 27, 2021 (155)
128 14KJPN NC_000016.10 - 21101951 Oct 17, 2022 (156)
129 TopMed NC_000016.10 - 21101951 Apr 27, 2021 (155)
130 UK 10K study - Twins NC_000016.9 - 21113272 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000016.9 - 21113272 Jul 13, 2019 (153)
132 ALFA NC_000016.10 - 21101951 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)
rs60931452 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
182755, 219955, ss201541690, ss282470491, ss480127257, ss1397712731, ss1696402868, ss1713531730, ss3639071354, ss3639844694, ss3643099839, ss3643894532, ss3847542063 NC_000016.8:21020772:G:A NC_000016.10:21101950:G:A (self)
68866443, 38230052, 27049968, 17054669, 40637172, 14695522, 976578, 260628, 17832922, 36155638, 9609673, 76815185, 38230052, 8491854, ss243332246, ss480136332, ss480835331, ss484861640, ss536927020, ss660583182, ss778448873, ss782877247, ss783841132, ss832131516, ss832812640, ss833904462, ss992369288, ss1080547049, ss1355720493, ss1427804586, ss1634178676, ss1677172709, ss1752186035, ss1935791000, ss1946411382, ss1959666924, ss2028682669, ss2157093319, ss2628834530, ss2633304519, ss2701596962, ss2710829781, ss2941312140, ss3014217489, ss3021692654, ss3625688870, ss3627496607, ss3631291909, ss3633116989, ss3633822804, ss3634636296, ss3635511198, ss3636326758, ss3637262614, ss3638118192, ss3640343615, ss3641069408, ss3641364906, ss3644664459, ss3652099145, ss3681311720, ss3741410657, ss3744139558, ss3744936741, ss3753787123, ss3772435092, ss3788004586, ss3792994508, ss3797879461, ss3840865635, ss3884138658, ss3933459778, ss3984711095, ss3985750651, ss4017730113, ss5218845878, ss5315830366, ss5422854193, ss5511586559, ss5658640939, ss5799954782, ss5846222546, ss5847766625, ss5950061726 NC_000016.9:21113271:G:A NC_000016.10:21101950:G:A (self)
90346875, 485309215, 1364158, 33637241, 1093001, 107285176, 226153278, 4531247057, ss2211241657, ss3699005574, ss3725551353, ss3771871532, ss3819082233, ss3846356422, ss3977259240, ss5010607617, ss5300445911, ss5493916147, ss5602820940, ss5773448072, ss5815835713, ss5851525175, ss5898602631 NC_000016.10:21101950:G:A NC_000016.10:21101950:G:A (self)
ss23959786, ss67162702, ss67513183, ss68167854, ss70647391, ss71202692, ss75486887, ss85343918, ss153587967, ss159300557, ss160404591, ss172685581 NT_010393.16:21053271:G:A NC_000016.10:21101950: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.

1 citation for rs16970881
PMID Title Author Year Journal
22610502 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. Kennedy RB et al. 2012 Human genetics
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.post820+afb47a3d