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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.

rs1397354

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:214051670 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.452762 (138910/306806, ALFA)
A=0.393305 (104104/264690, TOPMED)
A=0.404587 (56639/139992, GnomAD) (+ 20 more)
A=0.36213 (28499/78698, PAGE_STUDY)
A=0.41915 (7025/16760, 8.3KJPN)
A=0.4121 (2064/5008, 1000G)
G=0.4980 (2231/4480, Estonian)
A=0.4678 (1803/3854, ALSPAC)
A=0.4733 (1755/3708, TWINSUK)
A=0.4416 (1294/2930, KOREAN)
A=0.4069 (848/2084, HGDP_Stanford)
A=0.3150 (594/1886, HapMap)
A=0.4612 (845/1832, Korea1K)
A=0.4287 (487/1136, Daghestan)
A=0.491 (490/998, GoNL)
A=0.454 (359/790, PRJEB37584)
G=0.487 (292/600, NorthernSweden)
G=0.324 (120/370, SGDP_PRJ)
A=0.338 (73/216, Qatari)
G=0.382 (81/212, Vietnamese)
A=0.45 (30/66, Ancient Sardinia)
G=0.46 (21/46, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPAG16 : Intron 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 2 NC_000002.12:g.214051670G>A
GRCh37.p13 chr 2 NC_000002.11:g.214916394G>A
Gene: SPAG16, sperm associated antigen 16 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SPAG16 transcript variant 1 NM_024532.5:c.1527+37593G…

NM_024532.5:c.1527+37593G>A

N/A Intron Variant
SPAG16 transcript variant 2 NM_001025436.3:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant 3 NR_047659.2:n. N/A Intron Variant
SPAG16 transcript variant 4 NR_047660.2:n. N/A Intron Variant
SPAG16 transcript variant X1 XM_011511814.1:c.1434+375…

XM_011511814.1:c.1434+37593G>A

N/A Intron Variant
SPAG16 transcript variant X2 XM_011511815.2:c.1527+375…

XM_011511815.2:c.1527+37593G>A

N/A Intron Variant
SPAG16 transcript variant X3 XM_011511816.3:c.1527+375…

XM_011511816.3:c.1527+37593G>A

N/A Intron Variant
SPAG16 transcript variant X4 XM_011511817.2:c.1527+375…

XM_011511817.2:c.1527+37593G>A

N/A Intron Variant
SPAG16 transcript variant X5 XM_011511818.2:c.1527+375…

XM_011511818.2:c.1527+37593G>A

N/A Intron Variant
SPAG16 transcript variant X6 XM_011511819.2:c.1365+375…

XM_011511819.2:c.1365+37593G>A

N/A Intron Variant
SPAG16 transcript variant X7 XM_011511820.2:c.1341+375…

XM_011511820.2:c.1341+37593G>A

N/A Intron Variant
SPAG16 transcript variant X8 XM_011511821.2:c.1245+375…

XM_011511821.2:c.1245+37593G>A

N/A Intron Variant
SPAG16 transcript variant X10 XM_011511822.1:c.1218+375…

XM_011511822.1:c.1218+37593G>A

N/A Intron Variant
SPAG16 transcript variant X9 XM_011511823.3:c.1218+375…

XM_011511823.3:c.1218+37593G>A

N/A Intron Variant
SPAG16 transcript variant X11 XM_011511824.2:c.1528-110…

XM_011511824.2:c.1528-11020G>A

N/A Intron Variant
SPAG16 transcript variant X12 XM_017004896.1:c.1170+375…

XM_017004896.1:c.1170+37593G>A

N/A Intron Variant
SPAG16 transcript variant X13 XM_017004897.1:c.1170+375…

XM_017004897.1:c.1170+37593G>A

N/A Intron Variant
SPAG16 transcript variant X14 XM_017004898.1:c.804+3759…

XM_017004898.1:c.804+37593G>A

N/A Intron Variant
SPAG16 transcript variant X22 XM_024453140.1:c.609+3759…

XM_024453140.1:c.609+37593G>A

N/A Intron Variant
SPAG16 transcript variant X21 XM_006712746.3:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X15 XM_011511827.2:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X16 XM_011511828.2:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X17 XM_011511829.2:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X18 XM_011511831.2:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X19 XM_011511832.2:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X23 XM_011511837.3:c. N/A Genic Downstream Transcript Variant
SPAG16 transcript variant X20 XM_017004899.2:c. N/A Genic Downstream 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

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 306806 G=0.547238 A=0.452762
European Sub 269270 G=0.541055 A=0.458945
African Sub 11002 G=0.78958 A=0.21042
African Others Sub 402 G=0.826 A=0.174
African American Sub 10600 G=0.78821 A=0.21179
Asian Sub 3932 G=0.5170 A=0.4830
East Asian Sub 3190 G=0.5426 A=0.4574
Other Asian Sub 742 G=0.407 A=0.593
Latin American 1 Sub 1130 G=0.6018 A=0.3982
Latin American 2 Sub 7134 G=0.4544 A=0.5456
South Asian Sub 5224 G=0.4830 A=0.5170
Other Sub 9114 G=0.5531 A=0.4469


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=0.606695 A=0.393305
gnomAD - Genomes Global Study-wide 139992 G=0.595413 A=0.404587
gnomAD - Genomes European Sub 75816 G=0.51137 A=0.48863
gnomAD - Genomes African Sub 41968 G=0.79051 A=0.20949
gnomAD - Genomes American Sub 13622 G=0.47519 A=0.52481
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.6099 A=0.3901
gnomAD - Genomes East Asian Sub 3118 G=0.5202 A=0.4798
gnomAD - Genomes Other Sub 2146 G=0.5993 A=0.4007
The PAGE Study Global Study-wide 78698 G=0.63787 A=0.36213
The PAGE Study AfricanAmerican Sub 32514 G=0.78305 A=0.21695
The PAGE Study Mexican Sub 10808 G=0.46678 A=0.53322
The PAGE Study Asian Sub 8318 G=0.5660 A=0.4340
The PAGE Study PuertoRican Sub 7918 G=0.5637 A=0.4363
The PAGE Study NativeHawaiian Sub 4534 G=0.5126 A=0.4874
The PAGE Study Cuban Sub 4230 G=0.5946 A=0.4054
The PAGE Study Dominican Sub 3828 G=0.6701 A=0.3299
The PAGE Study CentralAmerican Sub 2450 G=0.4567 A=0.5433
The PAGE Study SouthAmerican Sub 1982 G=0.4596 A=0.5404
The PAGE Study NativeAmerican Sub 1260 G=0.5262 A=0.4738
The PAGE Study SouthAsian Sub 856 G=0.498 A=0.502
8.3KJPN JAPANESE Study-wide 16760 G=0.58085 A=0.41915
1000Genomes Global Study-wide 5008 G=0.5879 A=0.4121
1000Genomes African Sub 1322 G=0.8147 A=0.1853
1000Genomes East Asian Sub 1008 G=0.5010 A=0.4990
1000Genomes Europe Sub 1006 G=0.5646 A=0.4354
1000Genomes South Asian Sub 978 G=0.474 A=0.526
1000Genomes American Sub 694 G=0.476 A=0.524
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4980 A=0.5020
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5322 A=0.4678
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5267 A=0.4733
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5584 A=0.4416
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.5931 A=0.4069
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.526 A=0.474
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.536 A=0.464
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.660 A=0.340
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.569 A=0.431
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.893 A=0.107
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.542 A=0.458
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.29 A=0.71
HapMap Global Study-wide 1886 G=0.6850 A=0.3150
HapMap American Sub 766 G=0.565 A=0.435
HapMap African Sub 692 G=0.854 A=0.146
HapMap Asian Sub 254 G=0.598 A=0.402
HapMap Europe Sub 174 G=0.667 A=0.333
Korean Genome Project KOREAN Study-wide 1832 G=0.5388 A=0.4612
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.5713 A=0.4287
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.581 A=0.419
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.576 A=0.424
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.664 A=0.336
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.528 A=0.472
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.40 A=0.60
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.67 A=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.509 A=0.491
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.546 A=0.454
CNV burdens in cranial meningiomas CRM Sub 790 G=0.546 A=0.454
Northern Sweden ACPOP Study-wide 600 G=0.487 A=0.513
SGDP_PRJ Global Study-wide 370 G=0.324 A=0.676
Qatari Global Study-wide 216 G=0.662 A=0.338
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.382 A=0.618
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 G=0.55 A=0.45
Siberian Global Study-wide 46 G=0.46 A=0.54
The Danish reference pan genome Danish Study-wide 40 G=0.38 A=0.62
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.p13 chr 2 NC_000002.12:g.214051670= NC_000002.12:g.214051670G>A
GRCh37.p13 chr 2 NC_000002.11:g.214916394= NC_000002.11:g.214916394G>A
SPAG16 transcript variant 1 NM_024532.4:c.1527+37593= NM_024532.4:c.1527+37593G>A
SPAG16 transcript variant 1 NM_024532.5:c.1527+37593= NM_024532.5:c.1527+37593G>A
SPAG16 transcript variant X1 XM_011511814.1:c.1434+37593= XM_011511814.1:c.1434+37593G>A
SPAG16 transcript variant X2 XM_011511815.2:c.1527+37593= XM_011511815.2:c.1527+37593G>A
SPAG16 transcript variant X3 XM_011511816.3:c.1527+37593= XM_011511816.3:c.1527+37593G>A
SPAG16 transcript variant X4 XM_011511817.2:c.1527+37593= XM_011511817.2:c.1527+37593G>A
SPAG16 transcript variant X5 XM_011511818.2:c.1527+37593= XM_011511818.2:c.1527+37593G>A
SPAG16 transcript variant X6 XM_011511819.2:c.1365+37593= XM_011511819.2:c.1365+37593G>A
SPAG16 transcript variant X7 XM_011511820.2:c.1341+37593= XM_011511820.2:c.1341+37593G>A
SPAG16 transcript variant X8 XM_011511821.2:c.1245+37593= XM_011511821.2:c.1245+37593G>A
SPAG16 transcript variant X10 XM_011511822.1:c.1218+37593= XM_011511822.1:c.1218+37593G>A
SPAG16 transcript variant X9 XM_011511823.3:c.1218+37593= XM_011511823.3:c.1218+37593G>A
SPAG16 transcript variant X11 XM_011511824.2:c.1528-11020= XM_011511824.2:c.1528-11020G>A
SPAG16 transcript variant X12 XM_017004896.1:c.1170+37593= XM_017004896.1:c.1170+37593G>A
SPAG16 transcript variant X13 XM_017004897.1:c.1170+37593= XM_017004897.1:c.1170+37593G>A
SPAG16 transcript variant X14 XM_017004898.1:c.804+37593= XM_017004898.1:c.804+37593G>A
SPAG16 transcript variant X22 XM_024453140.1:c.609+37593= XM_024453140.1:c.609+37593G>A
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#.

122 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2193631 Oct 23, 2000 (88)
2 SC_JCM ss5784458 Feb 20, 2003 (111)
3 WI_SSAHASNP ss6435546 Feb 20, 2003 (111)
4 WUGSC_SSAHASNP ss14475680 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss19419818 Feb 27, 2004 (120)
6 PERLEGEN ss23897473 Sep 20, 2004 (123)
7 ABI ss44301902 Mar 14, 2006 (126)
8 ILLUMINA ss65715336 Oct 16, 2006 (127)
9 ILLUMINA ss66829517 Dec 02, 2006 (127)
10 ILLUMINA ss67094965 Dec 02, 2006 (127)
11 ILLUMINA ss67429469 Dec 02, 2006 (127)
12 PERLEGEN ss68842394 May 18, 2007 (127)
13 ILLUMINA ss70429237 May 18, 2007 (127)
14 ILLUMINA ss70613263 May 23, 2008 (130)
15 ILLUMINA ss71160960 May 18, 2007 (127)
16 AFFY ss74827953 Aug 16, 2007 (128)
17 ILLUMINA ss75880887 Dec 06, 2007 (129)
18 KRIBB_YJKIM ss83754548 Dec 14, 2007 (130)
19 BCMHGSC_JDW ss91538609 Mar 24, 2008 (129)
20 BGI ss103673278 Dec 01, 2009 (131)
21 1000GENOMES ss110727011 Jan 25, 2009 (130)
22 ILLUMINA ss120244548 Dec 01, 2009 (131)
23 ILLUMINA ss121677875 Dec 01, 2009 (131)
24 ENSEMBL ss138626480 Dec 01, 2009 (131)
25 ILLUMINA ss153413177 Dec 01, 2009 (131)
26 ILLUMINA ss159264939 Dec 01, 2009 (131)
27 ILLUMINA ss160347292 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss167566549 Jul 04, 2010 (132)
29 ILLUMINA ss170461072 Jul 04, 2010 (132)
30 ILLUMINA ss172470891 Jul 04, 2010 (132)
31 BUSHMAN ss201712752 Jul 04, 2010 (132)
32 1000GENOMES ss219801363 Jul 14, 2010 (132)
33 1000GENOMES ss231578706 Jul 14, 2010 (132)
34 1000GENOMES ss239039270 Jul 15, 2010 (132)
35 ILLUMINA ss244256061 Jul 04, 2010 (132)
36 GMI ss276890474 May 04, 2012 (137)
37 GMI ss284537623 Apr 25, 2013 (138)
38 PJP ss292483567 May 09, 2011 (134)
39 ILLUMINA ss479956300 May 04, 2012 (137)
40 ILLUMINA ss479964720 May 04, 2012 (137)
41 ILLUMINA ss480607110 Sep 08, 2015 (146)
42 ILLUMINA ss484776379 May 04, 2012 (137)
43 ILLUMINA ss536864565 Sep 08, 2015 (146)
44 TISHKOFF ss556206563 Apr 25, 2013 (138)
45 SSMP ss649873449 Apr 25, 2013 (138)
46 ILLUMINA ss778430258 Sep 08, 2015 (146)
47 ILLUMINA ss782834878 Sep 08, 2015 (146)
48 ILLUMINA ss783799620 Sep 08, 2015 (146)
49 ILLUMINA ss825398511 Apr 01, 2015 (144)
50 ILLUMINA ss832088452 Sep 08, 2015 (146)
51 ILLUMINA ss832777140 Jul 13, 2019 (153)
52 ILLUMINA ss833885718 Sep 08, 2015 (146)
53 EVA-GONL ss977940477 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1069925351 Aug 21, 2014 (142)
55 1000GENOMES ss1301571077 Aug 21, 2014 (142)
56 HAMMER_LAB ss1397319734 Sep 08, 2015 (146)
57 DDI ss1428904753 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1579315141 Apr 01, 2015 (144)
59 EVA_DECODE ss1587395352 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1605752519 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1648746552 Apr 01, 2015 (144)
62 EVA_SVP ss1712529164 Apr 01, 2015 (144)
63 ILLUMINA ss1752337435 Sep 08, 2015 (146)
64 HAMMER_LAB ss1798324259 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1921185088 Feb 12, 2016 (147)
66 ILLUMINA ss1946065553 Feb 12, 2016 (147)
67 ILLUMINA ss1958502250 Feb 12, 2016 (147)
68 GENOMED ss1969019747 Jul 19, 2016 (147)
69 JJLAB ss2021139852 Sep 14, 2016 (149)
70 USC_VALOUEV ss2149201890 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2238995295 Dec 20, 2016 (150)
72 TOPMED ss2405451566 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2625069054 Nov 08, 2017 (151)
74 ILLUMINA ss2633736962 Nov 08, 2017 (151)
75 GRF ss2703850025 Nov 08, 2017 (151)
76 ILLUMINA ss2710924823 Nov 08, 2017 (151)
77 GNOMAD ss2786120562 Nov 08, 2017 (151)
78 SWEGEN ss2991327470 Nov 08, 2017 (151)
79 ILLUMINA ss3022066617 Nov 08, 2017 (151)
80 BIOINF_KMB_FNS_UNIBA ss3024328073 Nov 08, 2017 (151)
81 TOPMED ss3337917886 Nov 08, 2017 (151)
82 CSHL ss3344732263 Nov 08, 2017 (151)
83 ILLUMINA ss3625775977 Oct 11, 2018 (152)
84 ILLUMINA ss3628281414 Oct 11, 2018 (152)
85 ILLUMINA ss3631697058 Oct 11, 2018 (152)
86 ILLUMINA ss3633233599 Oct 11, 2018 (152)
87 ILLUMINA ss3633946749 Oct 11, 2018 (152)
88 ILLUMINA ss3634810851 Oct 11, 2018 (152)
89 ILLUMINA ss3635632202 Oct 11, 2018 (152)
90 ILLUMINA ss3636500477 Oct 11, 2018 (152)
91 ILLUMINA ss3637384218 Oct 11, 2018 (152)
92 ILLUMINA ss3638317443 Oct 11, 2018 (152)
93 ILLUMINA ss3639162121 Oct 11, 2018 (152)
94 ILLUMINA ss3639594438 Oct 11, 2018 (152)
95 ILLUMINA ss3640518150 Oct 11, 2018 (152)
96 ILLUMINA ss3641120641 Oct 11, 2018 (152)
97 ILLUMINA ss3641416758 Oct 11, 2018 (152)
98 ILLUMINA ss3643282326 Oct 11, 2018 (152)
99 ILLUMINA ss3644768219 Oct 11, 2018 (152)
100 ILLUMINA ss3652517391 Oct 11, 2018 (152)
101 EGCUT_WGS ss3659222302 Jul 13, 2019 (153)
102 EVA_DECODE ss3705984849 Jul 13, 2019 (153)
103 ILLUMINA ss3725869893 Jul 13, 2019 (153)
104 ACPOP ss3729355400 Jul 13, 2019 (153)
105 ILLUMINA ss3744190243 Jul 13, 2019 (153)
106 ILLUMINA ss3745110673 Jul 13, 2019 (153)
107 EVA ss3758060456 Jul 13, 2019 (153)
108 PAGE_CC ss3770983862 Jul 13, 2019 (153)
109 ILLUMINA ss3772607197 Jul 13, 2019 (153)
110 KHV_HUMAN_GENOMES ss3802423280 Jul 13, 2019 (153)
111 EVA ss3827496242 Apr 25, 2020 (154)
112 EVA ss3837167418 Apr 25, 2020 (154)
113 EVA ss3842589090 Apr 25, 2020 (154)
114 HGDP ss3847650256 Apr 25, 2020 (154)
115 SGDP_PRJ ss3854554469 Apr 25, 2020 (154)
116 KRGDB ss3900270428 Apr 25, 2020 (154)
117 KOGIC ss3950046545 Apr 25, 2020 (154)
118 EVA ss3984497515 Apr 27, 2021 (155)
119 EVA ss3984952301 Apr 27, 2021 (155)
120 EVA ss4017048368 Apr 27, 2021 (155)
121 TOPMED ss4544003792 Apr 27, 2021 (155)
122 TOMMO_GENOMICS ss5156412106 Apr 27, 2021 (155)
123 1000Genomes NC_000002.11 - 214916394 Oct 11, 2018 (152)
124 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 214916394 Oct 11, 2018 (152)
125 Genome-wide autozygosity in Daghestan NC_000002.10 - 214624639 Apr 25, 2020 (154)
126 Genetic variation in the Estonian population NC_000002.11 - 214916394 Oct 11, 2018 (152)
127 The Danish reference pan genome NC_000002.11 - 214916394 Apr 25, 2020 (154)
128 gnomAD - Genomes NC_000002.12 - 214051670 Apr 27, 2021 (155)
129 Genome of the Netherlands Release 5 NC_000002.11 - 214916394 Apr 25, 2020 (154)
130 HGDP-CEPH-db Supplement 1 NC_000002.10 - 214624639 Apr 25, 2020 (154)
131 HapMap NC_000002.12 - 214051670 Apr 25, 2020 (154)
132 KOREAN population from KRGDB NC_000002.11 - 214916394 Apr 25, 2020 (154)
133 Korean Genome Project NC_000002.12 - 214051670 Apr 25, 2020 (154)
134 Northern Sweden NC_000002.11 - 214916394 Jul 13, 2019 (153)
135 The PAGE Study NC_000002.12 - 214051670 Jul 13, 2019 (153)
136 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 214916394 Apr 27, 2021 (155)
137 CNV burdens in cranial meningiomas NC_000002.11 - 214916394 Apr 27, 2021 (155)
138 Qatari NC_000002.11 - 214916394 Apr 25, 2020 (154)
139 SGDP_PRJ NC_000002.11 - 214916394 Apr 25, 2020 (154)
140 Siberian NC_000002.11 - 214916394 Apr 25, 2020 (154)
141 8.3KJPN NC_000002.11 - 214916394 Apr 27, 2021 (155)
142 TopMed NC_000002.12 - 214051670 Apr 27, 2021 (155)
143 UK 10K study - Twins NC_000002.11 - 214916394 Oct 11, 2018 (152)
144 A Vietnamese Genetic Variation Database NC_000002.11 - 214916394 Jul 13, 2019 (153)
145 ALFA NC_000002.12 - 214051670 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)
rs52805566 Sep 21, 2007 (128)
rs57303909 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639162121, ss3639594438 NC_000002.9:214741899:G:A NC_000002.12:214051669:G:A (self)
269513, 328148, ss91538609, ss110727011, ss167566549, ss201712752, ss276890474, ss284537623, ss292483567, ss479956300, ss825398511, ss1397319734, ss1587395352, ss1712529164, ss3643282326, ss3847650256 NC_000002.10:214624638:G:A NC_000002.12:214051669:G:A (self)
12673294, 7005931, 4960550, 5480080, 3073238, 7447822, 2640265, 178228, 46851, 3227018, 6571449, 1718244, 14381413, 7005931, 1523033, ss219801363, ss231578706, ss239039270, ss479964720, ss480607110, ss484776379, ss536864565, ss556206563, ss649873449, ss778430258, ss782834878, ss783799620, ss832088452, ss832777140, ss833885718, ss977940477, ss1069925351, ss1301571077, ss1428904753, ss1579315141, ss1605752519, ss1648746552, ss1752337435, ss1798324259, ss1921185088, ss1946065553, ss1958502250, ss1969019747, ss2021139852, ss2149201890, ss2405451566, ss2625069054, ss2633736962, ss2703850025, ss2710924823, ss2786120562, ss2991327470, ss3022066617, ss3344732263, ss3625775977, ss3628281414, ss3631697058, ss3633233599, ss3633946749, ss3634810851, ss3635632202, ss3636500477, ss3637384218, ss3638317443, ss3640518150, ss3641120641, ss3641416758, ss3644768219, ss3652517391, ss3659222302, ss3729355400, ss3744190243, ss3745110673, ss3758060456, ss3772607197, ss3827496242, ss3837167418, ss3854554469, ss3900270428, ss3984497515, ss3984952301, ss4017048368, ss5156412106 NC_000002.11:214916393:G:A NC_000002.12:214051669:G:A (self)
90387375, 2007114, 6424546, 205331, 217113978, 347826671, 6709059403, ss2238995295, ss3024328073, ss3337917886, ss3705984849, ss3725869893, ss3770983862, ss3802423280, ss3842589090, ss3950046545, ss4544003792 NC_000002.12:214051669:G:A NC_000002.12:214051669:G:A (self)
ss14475680, ss19419818 NT_005403.14:65125808:G:A NC_000002.12:214051669:G:A (self)
ss2193631, ss5784458, ss6435546, ss23897473, ss44301902, ss65715336, ss66829517, ss67094965, ss67429469, ss68842394, ss70429237, ss70613263, ss71160960, ss74827953, ss75880887, ss83754548, ss103673278, ss120244548, ss121677875, ss138626480, ss153413177, ss159264939, ss160347292, ss170461072, ss172470891, ss244256061 NT_005403.17:65125811:G:A NC_000002.12:214051669: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 rs1397354

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.post596+ae089ad