Name: rs70962456
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.

rs70962456

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:176191097-176191113 (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: del(T)₉ / del(T)₇ / del(T)₅ / del(…
del(T)₉ / del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTTT / dup(T)₁₄
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.3824 (1915/5008, 1000G)
(T)₁₇=0.2804 (1267/4518, ALFA)
delTT=0.0911 (351/3854, ALSPAC) (+ 1 more)
(T)₁₇=0.26 (10/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SPATA4 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	4518	TTTTTTTTTTTTTTTTT=0.2804	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0024, TTTTTTTTTTTTTTTT=0.7171, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	0.096085	0.532473	0.371441	9
European	Sub	4444	TTTTTTTTTTTTTTTTT=0.2698	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0025, TTTTTTTTTTTTTTTT=0.7277, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	0.082316	0.540027	0.377657	3
African	Sub	58	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	12	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	46	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	0	TTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 2	Sub	2	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	4	TTTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	10	TTTTTTTTTTTTTTTTT=0.4	TTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.6, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0	0.4	0.6	0.0	3

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
1000Genomes	Global	Study-wide	5008	(T)₁₇=0.6176	delT=0.3824
1000Genomes	African	Sub	1322	(T)₁₇=0.6407	delT=0.3593
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.6190	delT=0.3810
1000Genomes	Europe	Sub	1006	(T)₁₇=0.5736	delT=0.4264
1000Genomes	South Asian	Sub	978	(T)₁₇=0.660	delT=0.340
1000Genomes	American	Sub	694	(T)₁₇=0.576	delT=0.424
Allele Frequency Aggregator	Total	Global	4518	(T)₁₇=0.2804	del(T)₉=0.0000, del(T)₇=0.0000, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0024, delT=0.7171, dupT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	4444	(T)₁₇=0.2698	del(T)₉=0.0000, del(T)₇=0.0000, del(T)₅=0.0000, delTTT=0.0000, delTT=0.0025, delT=0.7277, dupT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	58	(T)₁₇=1.00	del(T)₉=0.00, del(T)₇=0.00, del(T)₅=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Other	Sub	10	(T)₁₇=0.4	del(T)₉=0.0, del(T)₇=0.0, del(T)₅=0.0, delTTT=0.0, delTT=0.0, delT=0.6, dupT=0.0, dupTTT=0.0
Allele Frequency Aggregator	South Asian	Sub	4	(T)₁₇=1.0	del(T)₉=0.0, del(T)₇=0.0, del(T)₅=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTTT=0.0
Allele Frequency Aggregator	Latin American 2	Sub	2	(T)₁₇=1.0	del(T)₉=0.0, del(T)₇=0.0, del(T)₅=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTTT=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(T)₁₇=0	del(T)₉=0, del(T)₇=0, del(T)₅=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTTT=0
Allele Frequency Aggregator	Asian	Sub	0	(T)₁₇=0	del(T)₉=0, del(T)₇=0, del(T)₅=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTTT=0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₁₇=0.9089	delTT=0.0911
The Danish reference pan genome	Danish	Study-wide	38	(T)₁₇=0.26	delT=0.74

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 4	NC_000004.12:g.176191105_176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191107_176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191109_176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191110_176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191111_176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191112_176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191113del
GRCh38.p14 chr 4	NC_000004.12:g.176191113dup
GRCh38.p14 chr 4	NC_000004.12:g.176191111_176191113dup
GRCh38.p14 chr 4	NC_000004.12:g.176191100_176191113dup
GRCh37.p13 chr 4	NC_000004.11:g.177112256_177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112258_177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112260_177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112261_177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112262_177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112263_177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112264del
GRCh37.p13 chr 4	NC_000004.11:g.177112264dup
GRCh37.p13 chr 4	NC_000004.11:g.177112262_177112264dup
GRCh37.p13 chr 4	NC_000004.11:g.177112251_177112264dup

Gene: SPATA4, spermatogenesis associated 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPATA4 transcript	NM_144644.4:c.688+1522_68… NM_144644.4:c.688+1522_688+1530del	N/A	Intron Variant
SPATA4 transcript variant X1	XM_047449608.1:c.169+1522… XM_047449608.1:c.169+1522_169+1530del	N/A	Intron 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	(T)₁₇=	del(T)₉	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTTT	dup(T)₁₄
GRCh38.p14 chr 4	NC_000004.12:g.176191097_176191113=	NC_000004.12:g.176191105_176191113del	NC_000004.12:g.176191107_176191113del	NC_000004.12:g.176191109_176191113del	NC_000004.12:g.176191110_176191113del	NC_000004.12:g.176191111_176191113del	NC_000004.12:g.176191112_176191113del	NC_000004.12:g.176191113del	NC_000004.12:g.176191113dup	NC_000004.12:g.176191111_176191113dup	NC_000004.12:g.176191100_176191113dup
GRCh37.p13 chr 4	NC_000004.11:g.177112248_177112264=	NC_000004.11:g.177112256_177112264del	NC_000004.11:g.177112258_177112264del	NC_000004.11:g.177112260_177112264del	NC_000004.11:g.177112261_177112264del	NC_000004.11:g.177112262_177112264del	NC_000004.11:g.177112263_177112264del	NC_000004.11:g.177112264del	NC_000004.11:g.177112264dup	NC_000004.11:g.177112262_177112264dup	NC_000004.11:g.177112251_177112264dup
SPATA4 transcript	NM_144644.2:c.688+1530=	NM_144644.2:c.688+1522_688+1530del	NM_144644.2:c.688+1524_688+1530del	NM_144644.2:c.688+1526_688+1530del	NM_144644.2:c.688+1527_688+1530del	NM_144644.2:c.688+1528_688+1530del	NM_144644.2:c.688+1529_688+1530del	NM_144644.2:c.688+1530del	NM_144644.2:c.688+1530dup	NM_144644.2:c.688+1528_688+1530dup	NM_144644.2:c.688+1517_688+1530dup
SPATA4 transcript	NM_144644.4:c.688+1530=	NM_144644.4:c.688+1522_688+1530del	NM_144644.4:c.688+1524_688+1530del	NM_144644.4:c.688+1526_688+1530del	NM_144644.4:c.688+1527_688+1530del	NM_144644.4:c.688+1528_688+1530del	NM_144644.4:c.688+1529_688+1530del	NM_144644.4:c.688+1530del	NM_144644.4:c.688+1530dup	NM_144644.4:c.688+1528_688+1530dup	NM_144644.4:c.688+1517_688+1530dup
SPATA4 transcript variant X1	XM_047449608.1:c.169+1530=	XM_047449608.1:c.169+1522_169+1530del	XM_047449608.1:c.169+1524_169+1530del	XM_047449608.1:c.169+1526_169+1530del	XM_047449608.1:c.169+1527_169+1530del	XM_047449608.1:c.169+1528_169+1530del	XM_047449608.1:c.169+1529_169+1530del	XM_047449608.1:c.169+1530del	XM_047449608.1:c.169+1530dup	XM_047449608.1:c.169+1528_169+1530dup	XM_047449608.1:c.169+1517_169+1530dup

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#.

44 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95379361	Feb 13, 2009 (130)
2	GMI	ss287763344	May 09, 2011 (137)
3	GMI	ss288599221	May 04, 2012 (137)
4	PJP	ss295202738	May 09, 2011 (137)
5	PJP	ss295202739	May 09, 2011 (134)
6	SSMP	ss663484554	Apr 01, 2015 (144)
7	SSIP	ss947133003	Aug 21, 2014 (142)
8	1000GENOMES	ss1373174309	Aug 21, 2014 (142)
9	EVA_GENOME_DK	ss1576409113	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1704483503	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1704486370	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1710184812	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710184819	Apr 01, 2015 (144)
14	SWEGEN	ss2996087717	Nov 08, 2017 (151)
15	MCHAISSO	ss3065991519	Nov 08, 2017 (151)
16	URBANLAB	ss3647928209	Oct 12, 2018 (152)
17	EVA_DECODE	ss3713702579	Jul 13, 2019 (153)
18	EVA_DECODE	ss3713702580	Jul 13, 2019 (153)
19	EVA_DECODE	ss3713702581	Jul 13, 2019 (153)
20	PACBIO	ss3784956430	Jul 13, 2019 (153)
21	PACBIO	ss3790379610	Jul 13, 2019 (153)
22	PACBIO	ss3795255290	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3805976516	Jul 13, 2019 (153)
24	EVA	ss3828980040	Apr 26, 2020 (154)
25	GNOMAD	ss4096099727	Apr 26, 2021 (155)
26	GNOMAD	ss4096099729	Apr 26, 2021 (155)
27	GNOMAD	ss4096099730	Apr 26, 2021 (155)
28	GNOMAD	ss4096099731	Apr 26, 2021 (155)
29	GNOMAD	ss4096099732	Apr 26, 2021 (155)
30	GNOMAD	ss4096099733	Apr 26, 2021 (155)
31	GNOMAD	ss4096099734	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5169475048	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5169475049	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5169475050	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5262169516	Oct 13, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5262169517	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5460602289	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5460602290	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5704871510	Oct 13, 2022 (156)
40	TOMMO_GENOMICS	ss5704871511	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5704871512	Oct 13, 2022 (156)
42	EVA	ss5845168735	Oct 13, 2022 (156)
43	EVA	ss5845168736	Oct 13, 2022 (156)
44	EVA	ss5866808521	Oct 13, 2022 (156)
45	1000Genomes	NC_000004.11 - 177112248	Oct 12, 2018 (152)
46	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 177112248	Oct 12, 2018 (152)
47	The Danish reference pan genome	NC_000004.11 - 177112248	Apr 26, 2020 (154)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 174486270 (NC_000004.12:176191096::T 12/112826) Row 174486272 (NC_000004.12:176191096:T: 99229/112766) Row 174486273 (NC_000004.12:176191096:TT: 2458/112794)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 27444355 (NC_000004.11:177112247:T: 16308/16760) Row 27444356 (NC_000004.11:177112247:TT: 35/16760) Row 27444357 (NC_000004.11:177112247::T 2/16760)	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 27444355 (NC_000004.11:177112247:T: 16308/16760) Row 27444356 (NC_000004.11:177112247:TT: 35/16760) Row 27444357 (NC_000004.11:177112247::T 2/16760)	-	Apr 26, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 27444355 (NC_000004.11:177112247:T: 16308/16760) Row 27444356 (NC_000004.11:177112247:TT: 35/16760) Row 27444357 (NC_000004.11:177112247::T 2/16760)	-	Apr 26, 2021 (155)
58	14KJPN Submission ignored due to conflicting rows: Row 38708614 (NC_000004.12:176191096:T: 27357/28258) Row 38708615 (NC_000004.12:176191096:TT: 49/28258) Row 38708616 (NC_000004.12:176191096::T 4/28258)	-	Oct 13, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 38708614 (NC_000004.12:176191096:T: 27357/28258) Row 38708615 (NC_000004.12:176191096:TT: 49/28258) Row 38708616 (NC_000004.12:176191096::T 4/28258)	-	Oct 13, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 38708614 (NC_000004.12:176191096:T: 27357/28258) Row 38708615 (NC_000004.12:176191096:TT: 49/28258) Row 38708616 (NC_000004.12:176191096::T 4/28258)	-	Oct 13, 2022 (156)
61	UK 10K study - Twins Submission ignored due to conflicting rows: Row 13712934 (NC_000004.11:177112248:T: 3378/3708) Row 13712935 (NC_000004.11:177112247:TT: 327/3708)	-	Apr 26, 2020 (154)
62	UK 10K study - Twins	-	Oct 12, 2018 (152)
63	ALFA	NC_000004.12 - 176191097	Apr 26, 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)
rs148069279	May 11, 2012 (137)
rs370831562	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4096099734	NC_000004.12:176191096:TTTTTTTTT:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4096099733	NC_000004.12:176191096:TTTTT:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4096099732	NC_000004.12:176191096:TTTT:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4096099731	NC_000004.12:176191096:TTT:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13712935, ss1704483503, ss1704486370, ss5169475049, ss5845168736	NC_000004.11:177112247:TT:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3065991519, ss3713702579, ss4096099730, ss5262169517, ss5460602289, ss5704871511	NC_000004.12:176191096:TT:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss288599221, ss295202738	NC_000004.10:177349241:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss295202739	NC_000004.10:177349257:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
24645996, 964877, ss663484554, ss1373174309, ss1576409113, ss2996087717, ss3784956430, ss3790379610, ss3795255290, ss3828980040, ss5169475048, ss5845168735	NC_000004.11:177112247:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss947133003, ss1710184812, ss1710184819	NC_000004.11:177112248:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3647928209, ss3805976516, ss4096099729, ss5262169516, ss5460602290, ss5704871510, ss5866808521	NC_000004.12:176191096:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3713702580	NC_000004.12:176191097:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss287763344	NT_016354.19:101659968:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss95379361	NT_016354.19:101659984:T:	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5169475050	NC_000004.11:177112247::T	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4096099727, ss5704871512	NC_000004.12:176191096::T	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3801766497	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3713702581	NC_000004.12:176191098::TTTTTTTTTT… NC_000004.12:176191098::TTTTTTTTTTTTTT	NC_000004.12:176191096:TTTTTTTTTTT… NC_000004.12:176191096:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs70962456

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs70962456