Name: rs7279886
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.

rs7279886

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:42749818 (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: C>A / C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.351113 (92936/264690, TOPMED)
C=0.314209 (61311/195128, ALFA)
C=0.345941 (48465/140096, GnomAD) (+ 18 more)
C=0.17333 (4898/28258, 14KJPN)
C=0.17434 (2922/16760, 8.3KJPN)
C=0.3364 (2154/6404, 1000G_30x)
C=0.3285 (1645/5008, 1000G)
C=0.2911 (1304/4480, Estonian)
C=0.2999 (1156/3854, ALSPAC)
C=0.2864 (1062/3708, TWINSUK)
C=0.1706 (500/2930, KOREAN)
C=0.3733 (778/2084, HGDP_Stanford)
C=0.3316 (626/1888, HapMap)
C=0.321 (320/998, GoNL)
C=0.327 (196/600, NorthernSweden)
C=0.224 (106/474, SGDP_PRJ)
C=0.444 (96/216, Qatari)
C=0.112 (24/214, Vietnamese)
C=0.31 (30/96, Ancient Sardinia)
C=0.24 (12/50, Siberian)
C=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PDE9A : 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	195128	C=0.314209	A=0.685791
European	Sub	172054	C=0.306195	A=0.693805
African	Sub	7092	C=0.4006	A=0.5994
African Others	Sub	264	C=0.447	A=0.553
African American	Sub	6828	C=0.3988	A=0.6012
Asian	Sub	702	C=0.174	A=0.826
East Asian	Sub	556	C=0.165	A=0.835
Other Asian	Sub	146	C=0.205	A=0.795
Latin American 1	Sub	784	C=0.358	A=0.642
Latin American 2	Sub	2840	C=0.4919	A=0.5081
South Asian	Sub	5042	C=0.3540	A=0.6460
Other	Sub	6614	C=0.3331	A=0.6669

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	C=0.351113	A=0.648887
Allele Frequency Aggregator	Total	Global	195128	C=0.314209	A=0.685791
Allele Frequency Aggregator	European	Sub	172054	C=0.306195	A=0.693805
Allele Frequency Aggregator	African	Sub	7092	C=0.4006	A=0.5994
Allele Frequency Aggregator	Other	Sub	6614	C=0.3331	A=0.6669
Allele Frequency Aggregator	South Asian	Sub	5042	C=0.3540	A=0.6460
Allele Frequency Aggregator	Latin American 2	Sub	2840	C=0.4919	A=0.5081
Allele Frequency Aggregator	Latin American 1	Sub	784	C=0.358	A=0.642
Allele Frequency Aggregator	Asian	Sub	702	C=0.174	A=0.826
gnomAD - Genomes	Global	Study-wide	140096	C=0.345941	A=0.654059
gnomAD - Genomes	European	Sub	75894	C=0.30690	A=0.69310
gnomAD - Genomes	African	Sub	41944	C=0.40809	A=0.59191
gnomAD - Genomes	American	Sub	13654	C=0.42325	A=0.57675
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.3365	A=0.6635
gnomAD - Genomes	East Asian	Sub	3130	C=0.1351	A=0.8649
gnomAD - Genomes	Other	Sub	2152	C=0.3420	A=0.6580
14KJPN	JAPANESE	Study-wide	28258	C=0.17333	A=0.82667
8.3KJPN	JAPANESE	Study-wide	16760	C=0.17434	A=0.82566
1000Genomes_30x	Global	Study-wide	6404	C=0.3364	A=0.6636
1000Genomes_30x	African	Sub	1786	C=0.4183	A=0.5817
1000Genomes_30x	Europe	Sub	1266	C=0.3128	A=0.6872
1000Genomes_30x	South Asian	Sub	1202	C=0.2987	A=0.7013
1000Genomes_30x	East Asian	Sub	1170	C=0.1333	A=0.8667
1000Genomes_30x	American	Sub	980	C=0.506	A=0.494
1000Genomes	Global	Study-wide	5008	C=0.3285	A=0.6715
1000Genomes	African	Sub	1322	C=0.4175	A=0.5825
1000Genomes	East Asian	Sub	1008	C=0.1339	A=0.8661
1000Genomes	Europe	Sub	1006	C=0.3171	A=0.6829
1000Genomes	South Asian	Sub	978	C=0.299	A=0.701
1000Genomes	American	Sub	694	C=0.500	A=0.500
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2911	A=0.7089
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.2999	A=0.7001
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.2864	A=0.7136
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.1706	A=0.8294, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.3733	A=0.6267
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.149	A=0.851
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.394	A=0.606
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.437	A=0.563
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.319	A=0.681
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.471	A=0.529
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.764	A=0.236
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.15	A=0.85
HapMap	Global	Study-wide	1888	C=0.3316	A=0.6684
HapMap	American	Sub	770	C=0.303	A=0.697
HapMap	African	Sub	688	C=0.427	A=0.573
HapMap	Asian	Sub	254	C=0.157	A=0.843
HapMap	Europe	Sub	176	C=0.335	A=0.665
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.321	A=0.679
Northern Sweden	ACPOP	Study-wide	600	C=0.327	A=0.673
SGDP_PRJ	Global	Study-wide	474	C=0.224	A=0.776
Qatari	Global	Study-wide	216	C=0.444	A=0.556
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.112	A=0.888
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	96	C=0.31	A=0.69
Siberian	Global	Study-wide	50	C=0.24	A=0.76
The Danish reference pan genome	Danish	Study-wide	40	C=0.20	A=0.80

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 21	NC_000021.9:g.42749818C>A
GRCh38.p14 chr 21	NC_000021.9:g.42749818C>G
GRCh37.p13 chr 21	NC_000021.8:g.44169928C>A
GRCh37.p13 chr 21	NC_000021.8:g.44169928C>G
PDE9A RefSeqGene	NG_047067.1:g.101067C>A
PDE9A RefSeqGene	NG_047067.1:g.101067C>G

Gene: PDE9A, phosphodiesterase 9A (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PDE9A transcript variant 2	NM_001001567.2:c.474-1298… NM_001001567.2:c.474-1298C>A	N/A	Intron Variant
PDE9A transcript variant 3	NM_001001568.2:c.273-1298… NM_001001568.2:c.273-1298C>A	N/A	Intron Variant
PDE9A transcript variant 4	NM_001001569.2:c.270-1298… NM_001001569.2:c.270-1298C>A	N/A	Intron Variant
PDE9A transcript variant 5	NM_001001570.2:c.495-1298… NM_001001570.2:c.495-1298C>A	N/A	Intron Variant
PDE9A transcript variant 6	NM_001001571.2:c.351-1298… NM_001001571.2:c.351-1298C>A	N/A	Intron Variant
PDE9A transcript variant 7	NM_001001572.2:c.33-1298C… NM_001001572.2:c.33-1298C>A	N/A	Intron Variant
PDE9A transcript variant 8	NM_001001573.2:c.33-1298C… NM_001001573.2:c.33-1298C>A	N/A	Intron Variant
PDE9A transcript variant 9	NM_001001574.2:c.396-1298… NM_001001574.2:c.396-1298C>A	N/A	Intron Variant
PDE9A transcript variant 10	NM_001001575.2:c.174-1298… NM_001001575.2:c.174-1298C>A	N/A	Intron Variant
PDE9A transcript variant 11	NM_001001576.2:c.3-1298C>A	N/A	Intron Variant
PDE9A transcript variant 12	NM_001001577.2:c.252-1298… NM_001001577.2:c.252-1298C>A	N/A	Intron Variant
PDE9A transcript variant 13	NM_001001578.2:c.348-1298… NM_001001578.2:c.348-1298C>A	N/A	Intron Variant
PDE9A transcript variant 14	NM_001001579.2:c.33-1298C… NM_001001579.2:c.33-1298C>A	N/A	Intron Variant
PDE9A transcript variant 15	NM_001001580.2:c.3-1298C>A	N/A	Intron Variant
PDE9A transcript variant 16	NM_001001581.2:c.453-1298… NM_001001581.2:c.453-1298C>A	N/A	Intron Variant
PDE9A transcript variant 17	NM_001001582.2:c.531-1298… NM_001001582.2:c.531-1298C>A	N/A	Intron Variant
PDE9A transcript variant 18	NM_001001583.2:c.576-1298… NM_001001583.2:c.576-1298C>A	N/A	Intron Variant
PDE9A transcript variant 19	NM_001001584.3:c.33-1298C… NM_001001584.3:c.33-1298C>A	N/A	Intron Variant
PDE9A transcript variant 20	NM_001001585.2:c.33-1298C… NM_001001585.2:c.33-1298C>A	N/A	Intron Variant
PDE9A transcript variant 21	NM_001315533.2:c.330-1298… NM_001315533.2:c.330-1298C>A	N/A	Intron Variant
PDE9A transcript variant 1	NM_002606.3:c.654-1298C>A	N/A	Intron Variant
PDE9A transcript variant X1	XM_011529598.3:c.510-1298… XM_011529598.3:c.510-1298C>A	N/A	Intron Variant
PDE9A transcript variant X2	XM_011529600.3:c.654-1298… XM_011529600.3:c.654-1298C>A	N/A	Intron Variant
PDE9A transcript variant X3	XM_017028366.2:c.33-1298C… XM_017028366.2:c.33-1298C>A	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	C=	A	G
GRCh38.p14 chr 21	NC_000021.9:g.42749818=	NC_000021.9:g.42749818C>A	NC_000021.9:g.42749818C>G
GRCh37.p13 chr 21	NC_000021.8:g.44169928=	NC_000021.8:g.44169928C>A	NC_000021.8:g.44169928C>G
PDE9A RefSeqGene	NG_047067.1:g.101067=	NG_047067.1:g.101067C>A	NG_047067.1:g.101067C>G
PDE9A transcript variant 2	NM_001001567.1:c.474-1298=	NM_001001567.1:c.474-1298C>A	NM_001001567.1:c.474-1298C>G
PDE9A transcript variant 2	NM_001001567.2:c.474-1298=	NM_001001567.2:c.474-1298C>A	NM_001001567.2:c.474-1298C>G
PDE9A transcript variant 3	NM_001001568.1:c.273-1298=	NM_001001568.1:c.273-1298C>A	NM_001001568.1:c.273-1298C>G
PDE9A transcript variant 3	NM_001001568.2:c.273-1298=	NM_001001568.2:c.273-1298C>A	NM_001001568.2:c.273-1298C>G
PDE9A transcript variant 4	NM_001001569.1:c.270-1298=	NM_001001569.1:c.270-1298C>A	NM_001001569.1:c.270-1298C>G
PDE9A transcript variant 4	NM_001001569.2:c.270-1298=	NM_001001569.2:c.270-1298C>A	NM_001001569.2:c.270-1298C>G
PDE9A transcript variant 5	NM_001001570.1:c.495-1298=	NM_001001570.1:c.495-1298C>A	NM_001001570.1:c.495-1298C>G
PDE9A transcript variant 5	NM_001001570.2:c.495-1298=	NM_001001570.2:c.495-1298C>A	NM_001001570.2:c.495-1298C>G
PDE9A transcript variant 6	NM_001001571.1:c.351-1298=	NM_001001571.1:c.351-1298C>A	NM_001001571.1:c.351-1298C>G
PDE9A transcript variant 6	NM_001001571.2:c.351-1298=	NM_001001571.2:c.351-1298C>A	NM_001001571.2:c.351-1298C>G
PDE9A transcript variant 7	NM_001001572.1:c.33-1298=	NM_001001572.1:c.33-1298C>A	NM_001001572.1:c.33-1298C>G
PDE9A transcript variant 7	NM_001001572.2:c.33-1298=	NM_001001572.2:c.33-1298C>A	NM_001001572.2:c.33-1298C>G
PDE9A transcript variant 8	NM_001001573.1:c.33-1298=	NM_001001573.1:c.33-1298C>A	NM_001001573.1:c.33-1298C>G
PDE9A transcript variant 8	NM_001001573.2:c.33-1298=	NM_001001573.2:c.33-1298C>A	NM_001001573.2:c.33-1298C>G
PDE9A transcript variant 9	NM_001001574.1:c.396-1298=	NM_001001574.1:c.396-1298C>A	NM_001001574.1:c.396-1298C>G
PDE9A transcript variant 9	NM_001001574.2:c.396-1298=	NM_001001574.2:c.396-1298C>A	NM_001001574.2:c.396-1298C>G
PDE9A transcript variant 10	NM_001001575.1:c.174-1298=	NM_001001575.1:c.174-1298C>A	NM_001001575.1:c.174-1298C>G
PDE9A transcript variant 10	NM_001001575.2:c.174-1298=	NM_001001575.2:c.174-1298C>A	NM_001001575.2:c.174-1298C>G
PDE9A transcript variant 11	NM_001001576.1:c.3-1298=	NM_001001576.1:c.3-1298C>A	NM_001001576.1:c.3-1298C>G
PDE9A transcript variant 11	NM_001001576.2:c.3-1298=	NM_001001576.2:c.3-1298C>A	NM_001001576.2:c.3-1298C>G
PDE9A transcript variant 12	NM_001001577.1:c.252-1298=	NM_001001577.1:c.252-1298C>A	NM_001001577.1:c.252-1298C>G
PDE9A transcript variant 12	NM_001001577.2:c.252-1298=	NM_001001577.2:c.252-1298C>A	NM_001001577.2:c.252-1298C>G
PDE9A transcript variant 13	NM_001001578.1:c.348-1298=	NM_001001578.1:c.348-1298C>A	NM_001001578.1:c.348-1298C>G
PDE9A transcript variant 13	NM_001001578.2:c.348-1298=	NM_001001578.2:c.348-1298C>A	NM_001001578.2:c.348-1298C>G
PDE9A transcript variant 14	NM_001001579.1:c.33-1298=	NM_001001579.1:c.33-1298C>A	NM_001001579.1:c.33-1298C>G
PDE9A transcript variant 14	NM_001001579.2:c.33-1298=	NM_001001579.2:c.33-1298C>A	NM_001001579.2:c.33-1298C>G
PDE9A transcript variant 15	NM_001001580.1:c.3-1298=	NM_001001580.1:c.3-1298C>A	NM_001001580.1:c.3-1298C>G
PDE9A transcript variant 15	NM_001001580.2:c.3-1298=	NM_001001580.2:c.3-1298C>A	NM_001001580.2:c.3-1298C>G
PDE9A transcript variant 16	NM_001001581.1:c.453-1298=	NM_001001581.1:c.453-1298C>A	NM_001001581.1:c.453-1298C>G
PDE9A transcript variant 16	NM_001001581.2:c.453-1298=	NM_001001581.2:c.453-1298C>A	NM_001001581.2:c.453-1298C>G
PDE9A transcript variant 17	NM_001001582.1:c.531-1298=	NM_001001582.1:c.531-1298C>A	NM_001001582.1:c.531-1298C>G
PDE9A transcript variant 17	NM_001001582.2:c.531-1298=	NM_001001582.2:c.531-1298C>A	NM_001001582.2:c.531-1298C>G
PDE9A transcript variant 18	NM_001001583.1:c.576-1298=	NM_001001583.1:c.576-1298C>A	NM_001001583.1:c.576-1298C>G
PDE9A transcript variant 18	NM_001001583.2:c.576-1298=	NM_001001583.2:c.576-1298C>A	NM_001001583.2:c.576-1298C>G
PDE9A transcript variant 19	NM_001001584.2:c.33-1298=	NM_001001584.2:c.33-1298C>A	NM_001001584.2:c.33-1298C>G
PDE9A transcript variant 19	NM_001001584.3:c.33-1298=	NM_001001584.3:c.33-1298C>A	NM_001001584.3:c.33-1298C>G
PDE9A transcript variant 20	NM_001001585.1:c.33-1298=	NM_001001585.1:c.33-1298C>A	NM_001001585.1:c.33-1298C>G
PDE9A transcript variant 20	NM_001001585.2:c.33-1298=	NM_001001585.2:c.33-1298C>A	NM_001001585.2:c.33-1298C>G
PDE9A transcript variant 21	NM_001315533.2:c.330-1298=	NM_001315533.2:c.330-1298C>A	NM_001315533.2:c.330-1298C>G
PDE9A transcript variant 1	NM_002606.2:c.654-1298=	NM_002606.2:c.654-1298C>A	NM_002606.2:c.654-1298C>G
PDE9A transcript variant 1	NM_002606.3:c.654-1298=	NM_002606.3:c.654-1298C>A	NM_002606.3:c.654-1298C>G
PDE9A transcript variant X1	XM_005261131.1:c.510-1298=	XM_005261131.1:c.510-1298C>A	XM_005261131.1:c.510-1298C>G
PDE9A transcript variant X2	XM_005261132.1:c.654-1298=	XM_005261132.1:c.654-1298C>A	XM_005261132.1:c.654-1298C>G
PDE9A transcript variant X3	XM_005261133.1:c.330-1298=	XM_005261133.1:c.330-1298C>A	XM_005261133.1:c.330-1298C>G
PDE9A transcript variant X1	XM_011529598.3:c.510-1298=	XM_011529598.3:c.510-1298C>A	XM_011529598.3:c.510-1298C>G
PDE9A transcript variant X2	XM_011529600.3:c.654-1298=	XM_011529600.3:c.654-1298C>A	XM_011529600.3:c.654-1298C>G
PDE9A transcript variant X3	XM_017028366.2:c.33-1298=	XM_017028366.2:c.33-1298C>A	XM_017028366.2:c.33-1298C>G

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#.

127 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10984412	Jul 11, 2003 (116)
2	CSHL-HAPMAP	ss16908610	Feb 27, 2004 (120)
3	SSAHASNP	ss21822033	Apr 05, 2004 (121)
4	ABI	ss41482201	Mar 14, 2006 (126)
5	ILLUMINA	ss66565135	Nov 29, 2006 (127)
6	ILLUMINA	ss67564457	Nov 29, 2006 (127)
7	ILLUMINA	ss67942930	Nov 29, 2006 (127)
8	ILLUMINA	ss70920637	May 24, 2008 (130)
9	ILLUMINA	ss71520404	May 16, 2007 (127)
10	ILLUMINA	ss75547804	Dec 06, 2007 (129)
11	ILLUMINA	ss79252711	Dec 15, 2007 (130)
12	HGSV	ss80125446	Dec 15, 2007 (130)
13	KRIBB_YJKIM	ss84649606	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss91852319	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss96172761	Feb 04, 2009 (130)
16	BGI	ss103832747	Feb 20, 2009 (130)
17	1000GENOMES	ss112508565	Jan 25, 2009 (130)
18	1000GENOMES	ss113955397	Jan 25, 2009 (130)
19	ILLUMINA-UK	ss117541308	Feb 14, 2009 (130)
20	ILLUMINA	ss122731026	Dec 01, 2009 (131)
21	ENSEMBL	ss135594210	Dec 01, 2009 (131)
22	ENSEMBL	ss138323697	Dec 01, 2009 (131)
23	ILLUMINA	ss154417317	Dec 01, 2009 (131)
24	GMI	ss156951886	Dec 01, 2009 (131)
25	ILLUMINA	ss159592412	Dec 01, 2009 (131)
26	ILLUMINA	ss160868168	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss168123467	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss169628901	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss172080234	Jul 04, 2010 (132)
30	ILLUMINA	ss172273813	Jul 04, 2010 (132)
31	ILLUMINA	ss174318835	Jul 04, 2010 (132)
32	BUSHMAN	ss204030607	Jul 04, 2010 (132)
33	BCM-HGSC-SUB	ss208799250	Jul 04, 2010 (132)
34	1000GENOMES	ss228588324	Jul 14, 2010 (132)
35	1000GENOMES	ss237999692	Jul 15, 2010 (132)
36	1000GENOMES	ss244134626	Jul 15, 2010 (132)
37	BL	ss255993662	May 09, 2011 (134)
38	GMI	ss283557603	May 04, 2012 (137)
39	GMI	ss287538781	Apr 25, 2013 (138)
40	PJP	ss292718755	May 09, 2011 (134)
41	ILLUMINA	ss481530878	May 04, 2012 (137)
42	ILLUMINA	ss481559723	May 04, 2012 (137)
43	ILLUMINA	ss482533750	Sep 08, 2015 (146)
44	ILLUMINA	ss485560473	May 04, 2012 (137)
45	ILLUMINA	ss537458930	Sep 08, 2015 (146)
46	TISHKOFF	ss566523901	Apr 25, 2013 (138)
47	SSMP	ss662434869	Apr 25, 2013 (138)
48	ILLUMINA	ss778599366	Sep 08, 2015 (146)
49	ILLUMINA	ss783225784	Sep 08, 2015 (146)
50	ILLUMINA	ss784180075	Sep 08, 2015 (146)
51	ILLUMINA	ss825583229	Apr 01, 2015 (144)
52	ILLUMINA	ss832486105	Sep 08, 2015 (146)
53	ILLUMINA	ss833103438	Jul 13, 2019 (153)
54	ILLUMINA	ss834056647	Sep 08, 2015 (146)
55	EVA-GONL	ss995161391	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1082532350	Aug 21, 2014 (142)
57	1000GENOMES	ss1366445319	Aug 21, 2014 (142)
58	DDI	ss1429197738	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1579680467	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1639647358	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1682641391	Apr 01, 2015 (144)
62	EVA_DECODE	ss1699232925	Apr 01, 2015 (144)
63	EVA_SVP	ss1713727171	Apr 01, 2015 (144)
64	ILLUMINA	ss1752410457	Sep 08, 2015 (146)
65	HAMMER_LAB	ss1809707241	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1938712141	Feb 12, 2016 (147)
67	GENOMED	ss1969235329	Jul 19, 2016 (147)
68	JJLAB	ss2030130731	Sep 14, 2016 (149)
69	USC_VALOUEV	ss2158735679	Dec 20, 2016 (150)
70	HUMAN_LONGEVITY	ss2246096909	Dec 20, 2016 (150)
71	SYSTEMSBIOZJU	ss2629564351	Nov 08, 2017 (151)
72	ILLUMINA	ss2633855334	Nov 08, 2017 (151)
73	GRF	ss2704466839	Nov 08, 2017 (151)
74	GNOMAD	ss2972223977	Nov 08, 2017 (151)
75	SWEGEN	ss3018957275	Nov 08, 2017 (151)
76	BIOINF_KMB_FNS_UNIBA	ss3028905133	Nov 08, 2017 (151)
77	CSHL	ss3352739362	Nov 08, 2017 (151)
78	ILLUMINA	ss3628492163	Oct 12, 2018 (152)
79	ILLUMINA	ss3631808535	Oct 12, 2018 (152)
80	ILLUMINA	ss3633267041	Oct 12, 2018 (152)
81	ILLUMINA	ss3633982117	Oct 12, 2018 (152)
82	ILLUMINA	ss3634857349	Oct 12, 2018 (152)
83	ILLUMINA	ss3635666809	Oct 12, 2018 (152)
84	ILLUMINA	ss3636553338	Oct 12, 2018 (152)
85	ILLUMINA	ss3637418985	Oct 12, 2018 (152)
86	ILLUMINA	ss3638370814	Oct 12, 2018 (152)
87	ILLUMINA	ss3639189483	Oct 12, 2018 (152)
88	ILLUMINA	ss3639610602	Oct 12, 2018 (152)
89	ILLUMINA	ss3640564649	Oct 12, 2018 (152)
90	ILLUMINA	ss3641134990	Oct 12, 2018 (152)
91	ILLUMINA	ss3641431328	Oct 12, 2018 (152)
92	ILLUMINA	ss3643331526	Oct 12, 2018 (152)
93	URBANLAB	ss3651125089	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3685534666	Jul 13, 2019 (153)
95	EVA_DECODE	ss3707814042	Jul 13, 2019 (153)
96	ACPOP	ss3743768962	Jul 13, 2019 (153)
97	ILLUMINA	ss3745157197	Jul 13, 2019 (153)
98	EVA	ss3759158457	Jul 13, 2019 (153)
99	ILLUMINA	ss3772653235	Jul 13, 2019 (153)
100	PACBIO	ss3788775219	Jul 13, 2019 (153)
101	PACBIO	ss3793648112	Jul 13, 2019 (153)
102	PACBIO	ss3798534413	Jul 13, 2019 (153)
103	KHV_HUMAN_GENOMES	ss3822324517	Jul 13, 2019 (153)
104	EVA	ss3835897161	Apr 27, 2020 (154)
105	EVA	ss3841576143	Apr 27, 2020 (154)
106	EVA	ss3847089846	Apr 27, 2020 (154)
107	HGDP	ss3847682894	Apr 27, 2020 (154)
108	SGDP_PRJ	ss3890089948	Apr 27, 2020 (154)
109	KRGDB	ss3940435562	Apr 27, 2020 (154)
110	EVA	ss3985907079	Apr 27, 2021 (155)
111	EVA	ss4017870662	Apr 27, 2021 (155)
112	TOPMED	ss5102935052	Apr 27, 2021 (155)
113	TOMMO_GENOMICS	ss5231706618	Apr 27, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5310357138	Oct 16, 2022 (156)
115	EVA	ss5316042321	Oct 16, 2022 (156)
116	EVA	ss5440143247	Oct 16, 2022 (156)
117	HUGCELL_USP	ss5502392709	Oct 16, 2022 (156)
118	1000G_HIGH_COVERAGE	ss5617562922	Oct 16, 2022 (156)
119	SANFORD_IMAGENETICS	ss5664095335	Oct 16, 2022 (156)
120	TOMMO_GENOMICS	ss5792270164	Oct 16, 2022 (156)
121	EVA	ss5800035791	Oct 16, 2022 (156)
122	YY_MCH	ss5818479322	Oct 16, 2022 (156)
123	EVA	ss5839097852	Oct 16, 2022 (156)
124	EVA	ss5853323713	Oct 16, 2022 (156)
125	EVA	ss5892518703	Oct 16, 2022 (156)
126	EVA	ss5958994847	Oct 16, 2022 (156)
127	EVA	ss5981118020	Oct 16, 2022 (156)
128	1000Genomes	NC_000021.8 - 44169928	Oct 12, 2018 (152)
129	1000Genomes_30x	NC_000021.9 - 42749818	Oct 16, 2022 (156)
130	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 44169928	Oct 12, 2018 (152)
131	Genetic variation in the Estonian population	NC_000021.8 - 44169928	Oct 12, 2018 (152)
132	The Danish reference pan genome	NC_000021.8 - 44169928	Apr 27, 2020 (154)
133	gnomAD - Genomes	NC_000021.9 - 42749818	Apr 27, 2021 (155)
134	Genome of the Netherlands Release 5	NC_000021.8 - 44169928	Apr 27, 2020 (154)
135	HGDP-CEPH-db Supplement 1	NC_000021.7 - 43042997	Apr 27, 2020 (154)
136	HapMap	NC_000021.9 - 42749818	Apr 27, 2020 (154)
137	KOREAN population from KRGDB	NC_000021.8 - 44169928	Apr 27, 2020 (154)
138	Northern Sweden	NC_000021.8 - 44169928	Jul 13, 2019 (153)
139	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 44169928	Apr 27, 2021 (155)
140	Qatari	NC_000021.8 - 44169928	Apr 27, 2020 (154)
141	SGDP_PRJ	NC_000021.8 - 44169928	Apr 27, 2020 (154)
142	Siberian	NC_000021.8 - 44169928	Apr 27, 2020 (154)
143	8.3KJPN	NC_000021.8 - 44169928	Apr 27, 2021 (155)
144	14KJPN	NC_000021.9 - 42749818	Oct 16, 2022 (156)
145	TopMed	NC_000021.9 - 42749818	Apr 27, 2021 (155)
146	UK 10K study - Twins	NC_000021.8 - 44169928	Oct 12, 2018 (152)
147	A Vietnamese Genetic Variation Database	NC_000021.8 - 44169928	Jul 13, 2019 (153)
148	ALFA	NC_000021.9 - 42749818	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)
rs58206008	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
360786, ss80125446, ss91852319, ss112508565, ss113955397, ss117541308, ss168123467, ss169628901, ss172080234, ss204030607, ss208799250, ss255993662, ss283557603, ss287538781, ss292718755, ss481530878, ss825583229, ss1699232925, ss1713727171, ss3639189483, ss3639610602, ss3643331526, ss3847682894	NC_000021.7:43042996:C:A	NC_000021.9:42749817:C:A	(self)
79971141, 44263788, 31272914, 5845406, 19718019, 47612956, 17053827, 1133006, 20754063, 42106928, 11252033, 89675925, 44263788, 9767036, ss228588324, ss237999692, ss244134626, ss481559723, ss482533750, ss485560473, ss537458930, ss566523901, ss662434869, ss778599366, ss783225784, ss784180075, ss832486105, ss833103438, ss834056647, ss995161391, ss1082532350, ss1366445319, ss1429197738, ss1579680467, ss1639647358, ss1682641391, ss1752410457, ss1809707241, ss1938712141, ss1969235329, ss2030130731, ss2158735679, ss2629564351, ss2633855334, ss2704466839, ss2972223977, ss3018957275, ss3352739362, ss3628492163, ss3631808535, ss3633267041, ss3633982117, ss3634857349, ss3635666809, ss3636553338, ss3637418985, ss3638370814, ss3640564649, ss3641134990, ss3641431328, ss3685534666, ss3743768962, ss3745157197, ss3759158457, ss3772653235, ss3788775219, ss3793648112, ss3798534413, ss3835897161, ss3841576143, ss3890089948, ss3940435562, ss3985907079, ss4017870662, ss5231706618, ss5316042321, ss5440143247, ss5664095335, ss5800035791, ss5839097852, ss5958994847, ss5981118020	NC_000021.8:44169927:C:A	NC_000021.9:42749817:C:A	(self)
105088857, 564272336, 2217955, 126107268, 378043998, 10923805160, ss2246096909, ss3028905133, ss3651125089, ss3707814042, ss3822324517, ss3847089846, ss5102935052, ss5310357138, ss5502392709, ss5617562922, ss5792270164, ss5818479322, ss5853323713, ss5892518703	NC_000021.9:42749817:C:A	NC_000021.9:42749817:C:A	(self)
ss41482201, ss66565135, ss67564457, ss67942930, ss70920637, ss71520404, ss75547804, ss79252711, ss84649606, ss96172761, ss103832747, ss122731026, ss135594210, ss138323697, ss154417317, ss156951886, ss159592412, ss160868168, ss172273813, ss174318835	NT_011515.12:1164368:C:A	NC_000021.9:42749817:C:A	(self)
ss10984412	NT_030188.2:919253:C:A	NC_000021.9:42749817:C:A	(self)
ss16908610, ss21822033	NT_030188.3:919253:C:A	NC_000021.9:42749817:C:A	(self)
47612956, ss3940435562	NC_000021.8:44169927:C:G	NC_000021.9:42749817:C: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 rs7279886

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

rs7279886