Name: rs1397354
Published: September 21, 2022
License: Open Access

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 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:214051670 (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=0.452762 (138910/306806, ALFA)
A=0.393305 (104104/264690, TOPMED)
A=0.462931 (94936/205076, GENOGRAPHIC) (+ 23 more)
A=0.404587 (56639/139992, GnomAD)
A=0.36213 (28499/78698, PAGE_STUDY)
A=0.42051 (11882/28256, 14KJPN)
A=0.41915 (7025/16760, 8.3KJPN)
A=0.4111 (2633/6404, 1000G_30x)
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

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	311840	G=0.547967	A=0.452033
European	Sub	272364	G=0.540872	A=0.459128
African	Sub	12142	G=0.79073	A=0.20927
African Others	Sub	456	G=0.829	A=0.171
African American	Sub	11686	G=0.78923	A=0.21077
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	9914	G=0.5533	A=0.4467

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	306806	G=0.547238	A=0.452762
Allele Frequency Aggregator	European	Sub	269270	G=0.541055	A=0.458945
Allele Frequency Aggregator	African	Sub	11002	G=0.78958	A=0.21042
Allele Frequency Aggregator	Other	Sub	9114	G=0.5531	A=0.4469
Allele Frequency Aggregator	Latin American 2	Sub	7134	G=0.4544	A=0.5456
Allele Frequency Aggregator	South Asian	Sub	5224	G=0.4830	A=0.5170
Allele Frequency Aggregator	Asian	Sub	3932	G=0.5170	A=0.4830
Allele Frequency Aggregator	Latin American 1	Sub	1130	G=0.6018	A=0.3982
TopMed	Global	Study-wide	264690	G=0.606695	A=0.393305
Genographic Project	Global	Study-wide	205076	G=0.537069	A=0.462931
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
14KJPN	JAPANESE	Study-wide	28256	G=0.57949	A=0.42051
8.3KJPN	JAPANESE	Study-wide	16760	G=0.58085	A=0.41915
1000Genomes_30x	Global	Study-wide	6404	G=0.5889	A=0.4111
1000Genomes_30x	African	Sub	1786	G=0.8169	A=0.1831
1000Genomes_30x	Europe	Sub	1266	G=0.5640	A=0.4360
1000Genomes_30x	South Asian	Sub	1202	G=0.4601	A=0.5399
1000Genomes_30x	East Asian	Sub	1170	G=0.5043	A=0.4957
1000Genomes_30x	American	Sub	980	G=0.464	A=0.536
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

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 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_011511814.2:c.1434+375… XM_011511814.2:c.1434+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X2	XM_011511815.3:c.1527+375… XM_011511815.3:c.1527+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X3	XM_011511816.4:c.1527+375… XM_011511816.4:c.1527+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X4	XM_011511817.3:c.1527+375… XM_011511817.3:c.1527+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X6	XM_011511818.3:c.1527+375… XM_011511818.3:c.1527+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X5	XM_011511819.3:c.1365+375… XM_011511819.3:c.1365+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X7	XM_011511820.3:c.1341+375… XM_011511820.3:c.1341+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X8	XM_011511823.4:c.1218+375… XM_011511823.4:c.1218+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X9	XM_011511824.3:c.1528-110… XM_011511824.3:c.1528-11020G>A	N/A	Intron Variant
SPAG16 transcript variant X10	XM_017004897.1:c.1170+375… XM_017004897.1:c.1170+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X12	XM_017004898.1:c.804+3759… XM_017004898.1:c.804+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X20	XM_024453140.2:c.609+3759… XM_024453140.2:c.609+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X11	XM_047445817.1:c.1170+375… XM_047445817.1:c.1170+37593G>A	N/A	Intron Variant
SPAG16 transcript variant X19	XM_006712746.4:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X13	XM_011511827.3:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X14	XM_011511828.3:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X15	XM_011511829.3:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X16	XM_011511831.3:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X17	XM_011511832.3:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X21	XM_011511837.4:c.	N/A	Genic Downstream Transcript Variant
SPAG16 transcript variant X18	XM_017004899.3:c.	N/A	Genic Downstream Transcript Variant

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

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 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_011511814.2:c.1434+37593=	XM_011511814.2:c.1434+37593G>A
SPAG16 transcript variant X2	XM_011511815.3:c.1527+37593=	XM_011511815.3:c.1527+37593G>A
SPAG16 transcript variant X3	XM_011511816.4:c.1527+37593=	XM_011511816.4:c.1527+37593G>A
SPAG16 transcript variant X4	XM_011511817.3:c.1527+37593=	XM_011511817.3:c.1527+37593G>A
SPAG16 transcript variant X6	XM_011511818.3:c.1527+37593=	XM_011511818.3:c.1527+37593G>A
SPAG16 transcript variant X5	XM_011511819.3:c.1365+37593=	XM_011511819.3:c.1365+37593G>A
SPAG16 transcript variant X7	XM_011511820.3:c.1341+37593=	XM_011511820.3:c.1341+37593G>A
SPAG16 transcript variant X8	XM_011511823.4:c.1218+37593=	XM_011511823.4:c.1218+37593G>A
SPAG16 transcript variant X9	XM_011511824.3:c.1528-11020=	XM_011511824.3:c.1528-11020G>A
SPAG16 transcript variant X10	XM_017004897.1:c.1170+37593=	XM_017004897.1:c.1170+37593G>A
SPAG16 transcript variant X12	XM_017004898.1:c.804+37593=	XM_017004898.1:c.804+37593G>A
SPAG16 transcript variant X20	XM_024453140.2:c.609+37593=	XM_024453140.2:c.609+37593G>A
SPAG16 transcript variant X11	XM_047445817.1:c.1170+37593=	XM_047445817.1:c.1170+37593G>A

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#.

139 SubSNP, 26 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	SYSTEMSBIOZJU	ss2625069054	Nov 08, 2017 (151)
73	ILLUMINA	ss2633736962	Nov 08, 2017 (151)
74	GRF	ss2703850025	Nov 08, 2017 (151)
75	ILLUMINA	ss2710924823	Nov 08, 2017 (151)
76	GNOMAD	ss2786120562	Nov 08, 2017 (151)
77	SWEGEN	ss2991327470	Nov 08, 2017 (151)
78	ILLUMINA	ss3022066617	Nov 08, 2017 (151)
79	BIOINF_KMB_FNS_UNIBA	ss3024328073	Nov 08, 2017 (151)
80	CSHL	ss3344732263	Nov 08, 2017 (151)
81	ILLUMINA	ss3625775977	Oct 11, 2018 (152)
82	ILLUMINA	ss3628281414	Oct 11, 2018 (152)
83	ILLUMINA	ss3631697058	Oct 11, 2018 (152)
84	ILLUMINA	ss3633233599	Oct 11, 2018 (152)
85	ILLUMINA	ss3633946749	Oct 11, 2018 (152)
86	ILLUMINA	ss3634810851	Oct 11, 2018 (152)
87	ILLUMINA	ss3635632202	Oct 11, 2018 (152)
88	ILLUMINA	ss3636500477	Oct 11, 2018 (152)
89	ILLUMINA	ss3637384218	Oct 11, 2018 (152)
90	ILLUMINA	ss3638317443	Oct 11, 2018 (152)
91	ILLUMINA	ss3639162121	Oct 11, 2018 (152)
92	ILLUMINA	ss3639594438	Oct 11, 2018 (152)
93	ILLUMINA	ss3640518150	Oct 11, 2018 (152)
94	ILLUMINA	ss3641120641	Oct 11, 2018 (152)
95	ILLUMINA	ss3641416758	Oct 11, 2018 (152)
96	ILLUMINA	ss3643282326	Oct 11, 2018 (152)
97	ILLUMINA	ss3644768219	Oct 11, 2018 (152)
98	ILLUMINA	ss3652517391	Oct 11, 2018 (152)
99	EGCUT_WGS	ss3659222302	Jul 13, 2019 (153)
100	EVA_DECODE	ss3705984849	Jul 13, 2019 (153)
101	ILLUMINA	ss3725869893	Jul 13, 2019 (153)
102	ACPOP	ss3729355400	Jul 13, 2019 (153)
103	ILLUMINA	ss3744190243	Jul 13, 2019 (153)
104	ILLUMINA	ss3745110673	Jul 13, 2019 (153)
105	EVA	ss3758060456	Jul 13, 2019 (153)
106	PAGE_CC	ss3770983862	Jul 13, 2019 (153)
107	ILLUMINA	ss3772607197	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3802423280	Jul 13, 2019 (153)
109	EVA	ss3827496242	Apr 25, 2020 (154)
110	EVA	ss3837167418	Apr 25, 2020 (154)
111	EVA	ss3842589090	Apr 25, 2020 (154)
112	HGDP	ss3847650256	Apr 25, 2020 (154)
113	SGDP_PRJ	ss3854554469	Apr 25, 2020 (154)
114	KRGDB	ss3900270428	Apr 25, 2020 (154)
115	KOGIC	ss3950046545	Apr 25, 2020 (154)
116	EVA	ss3984497515	Apr 27, 2021 (155)
117	EVA	ss3984952301	Apr 27, 2021 (155)
118	EVA	ss4017048368	Apr 27, 2021 (155)
119	TOPMED	ss4544003792	Apr 27, 2021 (155)
120	TOMMO_GENOMICS	ss5156412106	Apr 27, 2021 (155)
121	1000G_HIGH_COVERAGE	ss5251967978	Oct 13, 2022 (156)
122	GENOGRAPHIC	ss5314485930	Oct 13, 2022 (156)
123	EVA	ss5314806559	Oct 13, 2022 (156)
124	EVA	ss5335914809	Oct 13, 2022 (156)
125	HUGCELL_USP	ss5451584470	Oct 13, 2022 (156)
126	EVA	ss5506791394	Oct 13, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5529285476	Oct 13, 2022 (156)
128	SANFORD_IMAGENETICS	ss5624471195	Oct 13, 2022 (156)
129	SANFORD_IMAGENETICS	ss5630916149	Oct 13, 2022 (156)
130	TOMMO_GENOMICS	ss5687270851	Oct 13, 2022 (156)
131	EVA	ss5799559646	Oct 13, 2022 (156)
132	YY_MCH	ss5803205294	Oct 13, 2022 (156)
133	EVA	ss5821565491	Oct 13, 2022 (156)
134	EVA	ss5847204780	Oct 13, 2022 (156)
135	EVA	ss5847901728	Oct 13, 2022 (156)
136	EVA	ss5852943609	Oct 13, 2022 (156)
137	EVA	ss5934630073	Oct 13, 2022 (156)
138	EVA	ss5957169320	Oct 13, 2022 (156)
139	EVA	ss5979598912	Oct 13, 2022 (156)
140	1000Genomes	NC_000002.11 - 214916394	Oct 11, 2018 (152)
141	1000Genomes_30x	NC_000002.12 - 214051670	Oct 13, 2022 (156)
142	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 214916394	Oct 11, 2018 (152)
143	Genome-wide autozygosity in Daghestan	NC_000002.10 - 214624639	Apr 25, 2020 (154)
144	Genetic variation in the Estonian population	NC_000002.11 - 214916394	Oct 11, 2018 (152)
145	Genographic Project	NC_000002.12 - 214051670	Oct 13, 2022 (156)
146	The Danish reference pan genome	NC_000002.11 - 214916394	Apr 25, 2020 (154)
147	gnomAD - Genomes	NC_000002.12 - 214051670	Apr 27, 2021 (155)
148	Genome of the Netherlands Release 5	NC_000002.11 - 214916394	Apr 25, 2020 (154)
149	HGDP-CEPH-db Supplement 1	NC_000002.10 - 214624639	Apr 25, 2020 (154)
150	HapMap	NC_000002.12 - 214051670	Apr 25, 2020 (154)
151	KOREAN population from KRGDB	NC_000002.11 - 214916394	Apr 25, 2020 (154)
152	Korean Genome Project	NC_000002.12 - 214051670	Apr 25, 2020 (154)
153	Northern Sweden	NC_000002.11 - 214916394	Jul 13, 2019 (153)
154	The PAGE Study	NC_000002.12 - 214051670	Jul 13, 2019 (153)
155	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 214916394	Apr 27, 2021 (155)
156	CNV burdens in cranial meningiomas	NC_000002.11 - 214916394	Apr 27, 2021 (155)
157	Qatari	NC_000002.11 - 214916394	Apr 25, 2020 (154)
158	SGDP_PRJ	NC_000002.11 - 214916394	Apr 25, 2020 (154)
159	Siberian	NC_000002.11 - 214916394	Apr 25, 2020 (154)
160	8.3KJPN	NC_000002.11 - 214916394	Apr 27, 2021 (155)
161	14KJPN	NC_000002.12 - 214051670	Oct 13, 2022 (156)
162	TopMed	NC_000002.12 - 214051670	Apr 27, 2021 (155)
163	UK 10K study - Twins	NC_000002.11 - 214916394	Oct 11, 2018 (152)
164	A Vietnamese Genetic Variation Database	NC_000002.11 - 214916394	Jul 13, 2019 (153)
165	ALFA	NC_000002.12 - 214051670	Apr 27, 2021 (155)

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, 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, ss5314806559, ss5335914809, ss5506791394, ss5624471195, ss5630916149, ss5799559646, ss5821565491, ss5847204780, ss5847901728, ss5957169320, ss5979598912	NC_000002.11:214916393:G:A	NC_000002.12:214051669:G:A	(self)
16811411, 97604, 90387375, 2007114, 6424546, 205331, 21107955, 347826671, 6709059403, ss2238995295, ss3024328073, ss3705984849, ss3725869893, ss3770983862, ss3802423280, ss3842589090, ss3950046545, ss4544003792, ss5251967978, ss5314485930, ss5451584470, ss5529285476, ss5687270851, ss5803205294, ss5852943609, ss5934630073	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)

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

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1397354