Name: rs431579
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.

rs431579

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:25489420 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.469878 (124372/264690, TOPMED)
C=0.438734 (107674/245420, ALFA)
C=0.468065 (65502/139942, GnomAD) (+ 17 more)
T=0.47852 (37276/77898, PAGE_STUDY)
T=0.10090 (2851/28256, 14KJPN)
T=0.09971 (1671/16758, 8.3KJPN)
T=0.4530 (2901/6404, 1000G_30x)
T=0.4417 (2212/5008, 1000G)
C=0.4908 (2199/4480, Estonian)
C=0.4372 (1685/3854, ALSPAC)
C=0.4439 (1646/3708, TWINSUK)
T=0.0758 (222/2930, KOREAN)
T=0.4101 (776/1892, HapMap)
C=0.455 (454/998, GoNL)
T=0.068 (54/792, PRJEB37584)
C=0.403 (242/600, NorthernSweden)
T=0.291 (118/406, SGDP_PRJ)
C=0.380 (82/216, Qatari)
T=0.36 (16/44, Siberian)
C=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NINL : 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	250456	T=0.560881	A=0.000000, C=0.439119
European	Sub	222278	T=0.569107	A=0.000000, C=0.430893
African	Sub	8186	T=0.4982	A=0.0000, C=0.5018
African Others	Sub	328	T=0.491	A=0.000, C=0.509
African American	Sub	7858	T=0.4985	A=0.0000, C=0.5015
Asian	Sub	3852	T=0.0901	A=0.0000, C=0.9099
East Asian	Sub	3122	T=0.0756	A=0.0000, C=0.9244
Other Asian	Sub	730	T=0.152	A=0.000, C=0.848
Latin American 1	Sub	1032	T=0.5417	A=0.0000, C=0.4583
Latin American 2	Sub	6592	T=0.6696	A=0.0000, C=0.3304
South Asian	Sub	358	T=0.461	A=0.000, C=0.539
Other	Sub	8158	T=0.5409	A=0.0000, C=0.4591

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
TopMed	Global	Study-wide	264690	T=0.530122	C=0.469878
Allele Frequency Aggregator	Total	Global	245420	T=0.561266	A=0.000000, C=0.438734
Allele Frequency Aggregator	European	Sub	219184	T=0.569339	A=0.000000, C=0.430661
Allele Frequency Aggregator	Other	Sub	7358	T=0.5362	A=0.0000, C=0.4638
Allele Frequency Aggregator	African	Sub	7044	T=0.5006	A=0.0000, C=0.4994
Allele Frequency Aggregator	Latin American 2	Sub	6592	T=0.6696	A=0.0000, C=0.3304
Allele Frequency Aggregator	Asian	Sub	3852	T=0.0901	A=0.0000, C=0.9099
Allele Frequency Aggregator	Latin American 1	Sub	1032	T=0.5417	A=0.0000, C=0.4583
Allele Frequency Aggregator	South Asian	Sub	358	T=0.461	A=0.000, C=0.539
gnomAD - Genomes	Global	Study-wide	139942	T=0.531935	C=0.468065
gnomAD - Genomes	European	Sub	75792	T=0.55594	C=0.44406
gnomAD - Genomes	African	Sub	41924	T=0.48681	C=0.51319
gnomAD - Genomes	American	Sub	13634	T=0.60540	C=0.39460
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.6782	C=0.3218
gnomAD - Genomes	East Asian	Sub	3128	T=0.0707	C=0.9293
gnomAD - Genomes	Other	Sub	2148	T=0.5452	C=0.4548
The PAGE Study	Global	Study-wide	77898	T=0.47852	C=0.52148
The PAGE Study	AfricanAmerican	Sub	32184	T=0.48123	C=0.51877
The PAGE Study	Mexican	Sub	10672	T=0.67654	C=0.32346
The PAGE Study	Asian	Sub	8240	T=0.0919	C=0.9081
The PAGE Study	PuertoRican	Sub	7848	T=0.5838	C=0.4162
The PAGE Study	NativeHawaiian	Sub	4482	T=0.2008	C=0.7992
The PAGE Study	Cuban	Sub	4190	T=0.5568	C=0.4432
The PAGE Study	Dominican	Sub	3790	T=0.5124	C=0.4876
The PAGE Study	CentralAmerican	Sub	2424	T=0.6518	C=0.3482
The PAGE Study	SouthAmerican	Sub	1968	T=0.6524	C=0.3476
The PAGE Study	NativeAmerican	Sub	1248	T=0.5841	C=0.4159
The PAGE Study	SouthAsian	Sub	852	T=0.541	C=0.459
14KJPN	JAPANESE	Study-wide	28256	T=0.10090	C=0.89910
8.3KJPN	JAPANESE	Study-wide	16758	T=0.09971	C=0.90029
1000Genomes_30x	Global	Study-wide	6404	T=0.4530	C=0.5470
1000Genomes_30x	African	Sub	1786	T=0.4681	C=0.5319
1000Genomes_30x	Europe	Sub	1266	T=0.5687	C=0.4313
1000Genomes_30x	South Asian	Sub	1202	T=0.5092	C=0.4908
1000Genomes_30x	East Asian	Sub	1170	T=0.0889	C=0.9111
1000Genomes_30x	American	Sub	980	T=0.642	C=0.358
1000Genomes	Global	Study-wide	5008	T=0.4417	C=0.5583
1000Genomes	African	Sub	1322	T=0.4637	C=0.5363
1000Genomes	East Asian	Sub	1008	T=0.0933	C=0.9067
1000Genomes	Europe	Sub	1006	T=0.5696	C=0.4304
1000Genomes	South Asian	Sub	978	T=0.496	C=0.504
1000Genomes	American	Sub	694	T=0.644	C=0.356
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5092	C=0.4908
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5628	C=0.4372
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5561	C=0.4439
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0758	A=0.0000, C=0.9242, G=0.0000
HapMap	Global	Study-wide	1892	T=0.4101	C=0.5899
HapMap	American	Sub	770	T=0.455	C=0.545
HapMap	African	Sub	692	T=0.431	C=0.569
HapMap	Asian	Sub	254	T=0.083	C=0.917
HapMap	Europe	Sub	176	T=0.608	C=0.392
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.545	C=0.455
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.068	C=0.932
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.068	C=0.932
Northern Sweden	ACPOP	Study-wide	600	T=0.597	C=0.403
SGDP_PRJ	Global	Study-wide	406	T=0.291	C=0.709
Qatari	Global	Study-wide	216	T=0.620	C=0.380
Siberian	Global	Study-wide	44	T=0.36	C=0.64
The Danish reference pan genome	Danish	Study-wide	40	T=0.68	C=0.33

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 20	NC_000020.11:g.25489420T>A
GRCh38.p14 chr 20	NC_000020.11:g.25489420T>C
GRCh38.p14 chr 20	NC_000020.11:g.25489420T>G
GRCh37.p13 chr 20	NC_000020.10:g.25470056T>A
GRCh37.p13 chr 20	NC_000020.10:g.25470056T>C
GRCh37.p13 chr 20	NC_000020.10:g.25470056T>G

Gene: NINL, ninein like (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NINL transcript variant 2	NM_001318226.2:c.1597-96A… NM_001318226.2:c.1597-96A>T	N/A	Intron Variant
NINL transcript variant 1	NM_025176.6:c.1597-96A>T	N/A	Intron Variant
NINL transcript variant X1	XM_011529186.3:c.1660-96A… XM_011529186.3:c.1660-96A>T	N/A	Intron Variant
NINL transcript variant X2	XM_011529187.3:c.1645-96A… XM_011529187.3:c.1645-96A>T	N/A	Intron Variant
NINL transcript variant X5	XM_011529188.1:c.1612-96A… XM_011529188.1:c.1612-96A>T	N/A	Intron Variant
NINL transcript variant X6	XM_011529189.2:c.1612-96A… XM_011529189.2:c.1612-96A>T	N/A	Intron Variant
NINL transcript variant X14	XM_011529191.1:c.1135-96A… XM_011529191.1:c.1135-96A>T	N/A	Intron Variant
NINL transcript variant X19	XM_011529192.3:c.496-96A>T	N/A	Intron Variant
NINL transcript variant X23	XM_011529194.3:c.310-96A>T	N/A	Intron Variant
NINL transcript variant X24	XM_011529195.3:c.139-96A>T	N/A	Intron Variant
NINL transcript variant X27	XM_017027735.2:c.-264-96A… XM_017027735.2:c.-264-96A>T	N/A	Intron Variant
NINL transcript variant X3	XM_047440019.1:c.1633-96A… XM_047440019.1:c.1633-96A>T	N/A	Intron Variant
NINL transcript variant X4	XM_047440020.1:c.1618-96A… XM_047440020.1:c.1618-96A>T	N/A	Intron Variant
NINL transcript variant X7	XM_047440021.1:c.1597-96A… XM_047440021.1:c.1597-96A>T	N/A	Intron Variant
NINL transcript variant X8	XM_047440022.1:c.1651-96A… XM_047440022.1:c.1651-96A>T	N/A	Intron Variant
NINL transcript variant X9	XM_047440023.1:c.1675-96A… XM_047440023.1:c.1675-96A>T	N/A	Intron Variant
NINL transcript variant X10	XM_047440024.1:c.1645-96A… XM_047440024.1:c.1645-96A>T	N/A	Intron Variant
NINL transcript variant X11	XM_047440025.1:c.1633-96A… XM_047440025.1:c.1633-96A>T	N/A	Intron Variant
NINL transcript variant X12	XM_047440026.1:c.1618-96A… XM_047440026.1:c.1618-96A>T	N/A	Intron Variant
NINL transcript variant X13	XM_047440027.1:c.1612-96A… XM_047440027.1:c.1612-96A>T	N/A	Intron Variant
NINL transcript variant X15	XM_047440028.1:c.1120-96A… XM_047440028.1:c.1120-96A>T	N/A	Intron Variant
NINL transcript variant X16	XM_047440029.1:c.1120-96A… XM_047440029.1:c.1120-96A>T	N/A	Intron Variant
NINL transcript variant X18	XM_047440030.1:c.643-96A>T	N/A	Intron Variant
NINL transcript variant X20	XM_047440031.1:c.643-96A>T	N/A	Intron Variant
NINL transcript variant X21	XM_047440032.1:c.1645-96A… XM_047440032.1:c.1645-96A>T	N/A	Intron Variant
NINL transcript variant X22	XM_047440033.1:c.1612-96A… XM_047440033.1:c.1612-96A>T	N/A	Intron Variant
NINL transcript variant X25	XM_047440034.1:c.310-96A>T	N/A	Intron Variant
NINL transcript variant X26	XM_047440035.1:c.139-96A>T	N/A	Intron Variant
NINL transcript variant X28	XM_011529198.1:c.	N/A	Genic Upstream Transcript Variant
NINL transcript variant X17	XR_007067445.1:n.	N/A	Intron Variant
NINL transcript variant X29	XR_007067446.1:n.	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=	A	C	G
GRCh38.p14 chr 20	NC_000020.11:g.25489420=	NC_000020.11:g.25489420T>A	NC_000020.11:g.25489420T>C	NC_000020.11:g.25489420T>G
GRCh37.p13 chr 20	NC_000020.10:g.25470056=	NC_000020.10:g.25470056T>A	NC_000020.10:g.25470056T>C	NC_000020.10:g.25470056T>G
NINL transcript variant 2	NM_001318226.2:c.1597-96=	NM_001318226.2:c.1597-96A>T	NM_001318226.2:c.1597-96A>G	NM_001318226.2:c.1597-96A>C
NINL transcript	NM_025176.4:c.1597-96=	NM_025176.4:c.1597-96A>T	NM_025176.4:c.1597-96A>G	NM_025176.4:c.1597-96A>C
NINL transcript variant 1	NM_025176.6:c.1597-96=	NM_025176.6:c.1597-96A>T	NM_025176.6:c.1597-96A>G	NM_025176.6:c.1597-96A>C
NINL transcript variant X1	XM_005260678.1:c.1645-96=	XM_005260678.1:c.1645-96A>T	XM_005260678.1:c.1645-96A>G	XM_005260678.1:c.1645-96A>C
NINL transcript variant X9	XM_005260679.1:c.1597-96=	XM_005260679.1:c.1597-96A>T	XM_005260679.1:c.1597-96A>G	XM_005260679.1:c.1597-96A>C
NINL transcript variant X3	XM_005260680.1:c.496-96=	XM_005260680.1:c.496-96A>T	XM_005260680.1:c.496-96A>G	XM_005260680.1:c.496-96A>C
NINL transcript variant X1	XM_011529186.3:c.1660-96=	XM_011529186.3:c.1660-96A>T	XM_011529186.3:c.1660-96A>G	XM_011529186.3:c.1660-96A>C
NINL transcript variant X2	XM_011529187.3:c.1645-96=	XM_011529187.3:c.1645-96A>T	XM_011529187.3:c.1645-96A>G	XM_011529187.3:c.1645-96A>C
NINL transcript variant X5	XM_011529188.1:c.1612-96=	XM_011529188.1:c.1612-96A>T	XM_011529188.1:c.1612-96A>G	XM_011529188.1:c.1612-96A>C
NINL transcript variant X6	XM_011529189.2:c.1612-96=	XM_011529189.2:c.1612-96A>T	XM_011529189.2:c.1612-96A>G	XM_011529189.2:c.1612-96A>C
NINL transcript variant X14	XM_011529191.1:c.1135-96=	XM_011529191.1:c.1135-96A>T	XM_011529191.1:c.1135-96A>G	XM_011529191.1:c.1135-96A>C
NINL transcript variant X19	XM_011529192.3:c.496-96=	XM_011529192.3:c.496-96A>T	XM_011529192.3:c.496-96A>G	XM_011529192.3:c.496-96A>C
NINL transcript variant X23	XM_011529194.3:c.310-96=	XM_011529194.3:c.310-96A>T	XM_011529194.3:c.310-96A>G	XM_011529194.3:c.310-96A>C
NINL transcript variant X24	XM_011529195.3:c.139-96=	XM_011529195.3:c.139-96A>T	XM_011529195.3:c.139-96A>G	XM_011529195.3:c.139-96A>C
NINL transcript variant X27	XM_017027735.2:c.-264-96=	XM_017027735.2:c.-264-96A>T	XM_017027735.2:c.-264-96A>G	XM_017027735.2:c.-264-96A>C
NINL transcript variant X3	XM_047440019.1:c.1633-96=	XM_047440019.1:c.1633-96A>T	XM_047440019.1:c.1633-96A>G	XM_047440019.1:c.1633-96A>C
NINL transcript variant X4	XM_047440020.1:c.1618-96=	XM_047440020.1:c.1618-96A>T	XM_047440020.1:c.1618-96A>G	XM_047440020.1:c.1618-96A>C
NINL transcript variant X7	XM_047440021.1:c.1597-96=	XM_047440021.1:c.1597-96A>T	XM_047440021.1:c.1597-96A>G	XM_047440021.1:c.1597-96A>C
NINL transcript variant X8	XM_047440022.1:c.1651-96=	XM_047440022.1:c.1651-96A>T	XM_047440022.1:c.1651-96A>G	XM_047440022.1:c.1651-96A>C
NINL transcript variant X9	XM_047440023.1:c.1675-96=	XM_047440023.1:c.1675-96A>T	XM_047440023.1:c.1675-96A>G	XM_047440023.1:c.1675-96A>C
NINL transcript variant X10	XM_047440024.1:c.1645-96=	XM_047440024.1:c.1645-96A>T	XM_047440024.1:c.1645-96A>G	XM_047440024.1:c.1645-96A>C
NINL transcript variant X11	XM_047440025.1:c.1633-96=	XM_047440025.1:c.1633-96A>T	XM_047440025.1:c.1633-96A>G	XM_047440025.1:c.1633-96A>C
NINL transcript variant X12	XM_047440026.1:c.1618-96=	XM_047440026.1:c.1618-96A>T	XM_047440026.1:c.1618-96A>G	XM_047440026.1:c.1618-96A>C
NINL transcript variant X13	XM_047440027.1:c.1612-96=	XM_047440027.1:c.1612-96A>T	XM_047440027.1:c.1612-96A>G	XM_047440027.1:c.1612-96A>C
NINL transcript variant X15	XM_047440028.1:c.1120-96=	XM_047440028.1:c.1120-96A>T	XM_047440028.1:c.1120-96A>G	XM_047440028.1:c.1120-96A>C
NINL transcript variant X16	XM_047440029.1:c.1120-96=	XM_047440029.1:c.1120-96A>T	XM_047440029.1:c.1120-96A>G	XM_047440029.1:c.1120-96A>C
NINL transcript variant X18	XM_047440030.1:c.643-96=	XM_047440030.1:c.643-96A>T	XM_047440030.1:c.643-96A>G	XM_047440030.1:c.643-96A>C
NINL transcript variant X20	XM_047440031.1:c.643-96=	XM_047440031.1:c.643-96A>T	XM_047440031.1:c.643-96A>G	XM_047440031.1:c.643-96A>C
NINL transcript variant X21	XM_047440032.1:c.1645-96=	XM_047440032.1:c.1645-96A>T	XM_047440032.1:c.1645-96A>G	XM_047440032.1:c.1645-96A>C
NINL transcript variant X22	XM_047440033.1:c.1612-96=	XM_047440033.1:c.1612-96A>T	XM_047440033.1:c.1612-96A>G	XM_047440033.1:c.1612-96A>C
NINL transcript variant X25	XM_047440034.1:c.310-96=	XM_047440034.1:c.310-96A>T	XM_047440034.1:c.310-96A>G	XM_047440034.1:c.310-96A>C
NINL transcript variant X26	XM_047440035.1:c.139-96=	XM_047440035.1:c.139-96A>T	XM_047440035.1:c.139-96A>G	XM_047440035.1:c.139-96A>C

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#.

124 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss572929	Jul 16, 2000 (80)
2	TSC-CSHL	ss3349081	Sep 28, 2001 (100)
3	SC_JCM	ss3395790	Sep 28, 2001 (100)
4	SC_SNP	ss8344826	Apr 21, 2003 (114)
5	CSHL-HAPMAP	ss16893418	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss20124614	Feb 27, 2004 (120)
7	SSAHASNP	ss21801508	Apr 05, 2004 (121)
8	PERLEGEN	ss23531845	Sep 20, 2004 (123)
9	ABI	ss41408649	Mar 13, 2006 (126)
10	ILLUMINA	ss75141408	Dec 07, 2007 (129)
11	SI_EXO	ss76888718	Dec 07, 2007 (129)
12	HUMANGENOME_JCVI	ss96224458	Feb 05, 2009 (130)
13	BGI	ss106185407	Feb 05, 2009 (130)
14	1000GENOMES	ss111904432	Jan 25, 2009 (130)
15	1000GENOMES	ss113243709	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss117524341	Feb 14, 2009 (130)
17	KRIBB_YJKIM	ss119353606	Dec 01, 2009 (131)
18	ENSEMBL	ss143702562	Dec 01, 2009 (131)
19	GMI	ss156301428	Dec 01, 2009 (131)
20	ILLUMINA	ss160672069	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss169424333	Jul 04, 2010 (132)
22	ILLUMINA	ss173713983	Jul 04, 2010 (132)
23	BUSHMAN	ss203866061	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss208733296	Jul 04, 2010 (132)
25	1000GENOMES	ss228320512	Jul 14, 2010 (132)
26	1000GENOMES	ss237808597	Jul 15, 2010 (132)
27	1000GENOMES	ss243985468	Jul 15, 2010 (132)
28	GMI	ss283343761	May 04, 2012 (137)
29	PJP	ss292636976	May 09, 2011 (134)
30	ILLUMINA	ss410932915	Sep 17, 2011 (135)
31	ILLUMINA	ss480922659	May 04, 2012 (137)
32	ILLUMINA	ss480941925	May 04, 2012 (137)
33	ILLUMINA	ss481902874	Sep 08, 2015 (146)
34	ILLUMINA	ss485256314	May 04, 2012 (137)
35	ILLUMINA	ss537226896	Sep 08, 2015 (146)
36	TISHKOFF	ss566210950	Apr 25, 2013 (138)
37	SSMP	ss662083834	Apr 25, 2013 (138)
38	ILLUMINA	ss783074112	Sep 08, 2015 (146)
39	ILLUMINA	ss784031871	Sep 08, 2015 (146)
40	ILLUMINA	ss832332303	Sep 08, 2015 (146)
41	ILLUMINA	ss834367121	Sep 08, 2015 (146)
42	EVA-GONL	ss994659458	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1082162455	Aug 21, 2014 (142)
44	1000GENOMES	ss1364512463	Aug 21, 2014 (142)
45	DDI	ss1429030855	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1579485024	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1638653742	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1681647775	Apr 01, 2015 (144)
49	EVA_DECODE	ss1698718648	Apr 01, 2015 (144)
50	EVA_SVP	ss1713689751	Apr 01, 2015 (144)
51	ILLUMINA	ss1752381896	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1809475369	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1938167318	Feb 12, 2016 (147)
54	ILLUMINA	ss1946549843	Feb 12, 2016 (147)
55	ILLUMINA	ss1959907620	Feb 12, 2016 (147)
56	GENOMED	ss1969119597	Jul 19, 2016 (147)
57	JJLAB	ss2029868954	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2158421076	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2242235916	Dec 20, 2016 (150)
60	SYSTEMSBIOZJU	ss2629428998	Nov 08, 2017 (151)
61	ILLUMINA	ss2633790850	Nov 08, 2017 (151)
62	GRF	ss2704098247	Nov 08, 2017 (151)
63	ILLUMINA	ss2710937885	Nov 08, 2017 (151)
64	GNOMAD	ss2966675340	Nov 08, 2017 (151)
65	SWEGEN	ss3018043930	Nov 08, 2017 (151)
66	ILLUMINA	ss3022111135	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3028767048	Nov 08, 2017 (151)
68	CSHL	ss3352471875	Nov 08, 2017 (151)
69	ILLUMINA	ss3625786632	Oct 12, 2018 (152)
70	ILLUMINA	ss3628376687	Oct 12, 2018 (152)
71	ILLUMINA	ss3631747842	Oct 12, 2018 (152)
72	ILLUMINA	ss3633963095	Oct 12, 2018 (152)
73	ILLUMINA	ss3634832312	Oct 12, 2018 (152)
74	ILLUMINA	ss3635648214	Oct 12, 2018 (152)
75	ILLUMINA	ss3636524228	Oct 12, 2018 (152)
76	ILLUMINA	ss3637400298	Oct 12, 2018 (152)
77	ILLUMINA	ss3638341769	Oct 12, 2018 (152)
78	ILLUMINA	ss3640539609	Oct 12, 2018 (152)
79	ILLUMINA	ss3643304755	Oct 12, 2018 (152)
80	ILLUMINA	ss3644780228	Oct 12, 2018 (152)
81	OMUKHERJEE_ADBS	ss3646547346	Oct 12, 2018 (152)
82	URBANLAB	ss3650995845	Oct 12, 2018 (152)
83	ILLUMINA	ss3652566078	Oct 12, 2018 (152)
84	EGCUT_WGS	ss3684770537	Jul 13, 2019 (153)
85	EVA_DECODE	ss3706778827	Jul 13, 2019 (153)
86	ILLUMINA	ss3725909326	Jul 13, 2019 (153)
87	ACPOP	ss3743344867	Jul 13, 2019 (153)
88	ILLUMINA	ss3744196820	Jul 13, 2019 (153)
89	ILLUMINA	ss3745132208	Jul 13, 2019 (153)
90	EVA	ss3758565546	Jul 13, 2019 (153)
91	PAGE_CC	ss3772043465	Jul 13, 2019 (153)
92	ILLUMINA	ss3772628449	Jul 13, 2019 (153)
93	KHV_HUMAN_GENOMES	ss3821731549	Jul 13, 2019 (153)
94	EVA	ss3835644985	Apr 27, 2020 (154)
95	EVA	ss3841448931	Apr 27, 2020 (154)
96	EVA	ss3846957199	Apr 27, 2020 (154)
97	SGDP_PRJ	ss3888964764	Apr 27, 2020 (154)
98	KRGDB	ss3939173507	Apr 27, 2020 (154)
99	FSA-LAB	ss3984214238	Apr 27, 2021 (155)
100	EVA	ss3984748977	Apr 27, 2021 (155)
101	EVA	ss3986826184	Apr 27, 2021 (155)
102	TOPMED	ss5086149145	Apr 27, 2021 (155)
103	TOMMO_GENOMICS	ss5229331332	Apr 27, 2021 (155)
104	EVA	ss5237251345	Apr 27, 2021 (155)
105	1000G_HIGH_COVERAGE	ss5308469475	Oct 16, 2022 (156)
106	EVA	ss5316003664	Oct 16, 2022 (156)
107	EVA	ss5436980684	Oct 16, 2022 (156)
108	HUGCELL_USP	ss5500834139	Oct 16, 2022 (156)
109	EVA	ss5512197110	Oct 16, 2022 (156)
110	1000G_HIGH_COVERAGE	ss5614750801	Oct 16, 2022 (156)
111	EVA	ss5623980729	Oct 16, 2022 (156)
112	EVA	ss5624112627	Oct 16, 2022 (156)
113	SANFORD_IMAGENETICS	ss5663087366	Oct 16, 2022 (156)
114	TOMMO_GENOMICS	ss5788457637	Oct 16, 2022 (156)
115	EVA	ss5800020324	Oct 16, 2022 (156)
116	EVA	ss5800228866	Oct 16, 2022 (156)
117	YY_MCH	ss5817912091	Oct 16, 2022 (156)
118	EVA	ss5845598225	Oct 16, 2022 (156)
119	EVA	ss5847918121	Oct 16, 2022 (156)
120	EVA	ss5848545640	Oct 16, 2022 (156)
121	EVA	ss5853116626	Oct 16, 2022 (156)
122	EVA	ss5923126134	Oct 16, 2022 (156)
123	EVA	ss5958005003	Oct 16, 2022 (156)
124	EVA	ss5981082784	Oct 16, 2022 (156)
125	1000Genomes	NC_000020.10 - 25470056	Oct 12, 2018 (152)
126	1000Genomes_30x	NC_000020.11 - 25489420	Oct 16, 2022 (156)
127	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 25470056	Oct 12, 2018 (152)
128	Genetic variation in the Estonian population	NC_000020.10 - 25470056	Oct 12, 2018 (152)
129	The Danish reference pan genome	NC_000020.10 - 25470056	Apr 27, 2020 (154)
130	gnomAD - Genomes	NC_000020.11 - 25489420	Apr 27, 2021 (155)
131	Genome of the Netherlands Release 5	NC_000020.10 - 25470056	Apr 27, 2020 (154)
132	HapMap	NC_000020.11 - 25489420	Apr 27, 2020 (154)
133	KOREAN population from KRGDB	NC_000020.10 - 25470056	Apr 27, 2020 (154)
134	Northern Sweden	NC_000020.10 - 25470056	Jul 13, 2019 (153)
135	The PAGE Study	NC_000020.11 - 25489420	Jul 13, 2019 (153)
136	CNV burdens in cranial meningiomas	NC_000020.10 - 25470056	Apr 27, 2021 (155)
137	Qatari	NC_000020.10 - 25470056	Apr 27, 2020 (154)
138	SGDP_PRJ	NC_000020.10 - 25470056	Apr 27, 2020 (154)
139	Siberian	NC_000020.10 - 25470056	Apr 27, 2020 (154)
140	8.3KJPN	NC_000020.10 - 25470056	Apr 27, 2021 (155)
141	14KJPN	NC_000020.11 - 25489420	Oct 16, 2022 (156)
142	TopMed	NC_000020.11 - 25489420	Apr 27, 2021 (155)
143	UK 10K study - Twins	NC_000020.10 - 25470056	Oct 12, 2018 (152)
144	ALFA	NC_000020.11 - 25489420	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46350901, ss3939173507	NC_000020.10:25470055:T:A	NC_000020.11:25489419:T:A	(self)
8604024825	NC_000020.11:25489419:T:A	NC_000020.11:25489419:T:A	(self)
ss111904432, ss113243709, ss117524341, ss169424333, ss203866061, ss208733296, ss283343761, ss292636976, ss480922659, ss1698718648, ss1713689751, ss3643304755	NC_000020.9:25418055:T:C	NC_000020.11:25489419:T:C	(self)
77966820, 43168162, 30508785, 5649963, 19235183, 46350901, 16629732, 298545, 20209240, 40981744, 10937430, 87300639, 43168162, ss228320512, ss237808597, ss243985468, ss480941925, ss481902874, ss485256314, ss537226896, ss566210950, ss662083834, ss783074112, ss784031871, ss832332303, ss834367121, ss994659458, ss1082162455, ss1364512463, ss1429030855, ss1579485024, ss1638653742, ss1681647775, ss1752381896, ss1809475369, ss1938167318, ss1946549843, ss1959907620, ss1969119597, ss2029868954, ss2158421076, ss2629428998, ss2633790850, ss2704098247, ss2710937885, ss2966675340, ss3018043930, ss3022111135, ss3352471875, ss3625786632, ss3628376687, ss3631747842, ss3633963095, ss3634832312, ss3635648214, ss3636524228, ss3637400298, ss3638341769, ss3640539609, ss3644780228, ss3646547346, ss3652566078, ss3684770537, ss3743344867, ss3744196820, ss3745132208, ss3758565546, ss3772628449, ss3835644985, ss3841448931, ss3888964764, ss3939173507, ss3984214238, ss3984748977, ss3986826184, ss5229331332, ss5316003664, ss5436980684, ss5512197110, ss5623980729, ss5624112627, ss5663087366, ss5800020324, ss5800228866, ss5845598225, ss5847918121, ss5848545640, ss5958005003, ss5981082784	NC_000020.10:25470055:T:C	NC_000020.11:25489419:T:C	(self)
102276736, 549643913, 2105152, 1264934, 122294741, 361258090, 8604024825, ss2242235916, ss3028767048, ss3650995845, ss3706778827, ss3725909326, ss3772043465, ss3821731549, ss3846957199, ss5086149145, ss5237251345, ss5308469475, ss5500834139, ss5614750801, ss5788457637, ss5817912091, ss5853116626, ss5923126134	NC_000020.11:25489419:T:C	NC_000020.11:25489419:T:C	(self)
ss572929, ss3349081, ss3395790, ss8344826, ss16893418, ss20124614, ss21801508, ss23531845, ss41408649, ss75141408, ss76888718, ss96224458, ss106185407, ss119353606, ss143702562, ss156301428, ss160672069, ss173713983, ss410932915	NT_011387.8:25410055:T:C	NC_000020.11:25489419:T:C	(self)
46350901, ss3939173507	NC_000020.10:25470055:T:G	NC_000020.11:25489419:T:G	(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 rs431579

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

rs431579