Name: rs6491088
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.

rs6491088

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:25699247 (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>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.010325 (2733/264690, TOPMED)
G=0.002742 (331/120722, ExAC)
G=0.21056 (7242/34394, ALFA) (+ 18 more)
G=0.00000 (0/28258, 14KJPN)
G=0.00000 (0/16760, 8.3KJPN)
G=0.01018 (125/12284, GO-ESP)
G=0.0126 (81/6404, 1000G_30x)
G=0.0126 (63/5008, 1000G)
G=0.0002 (1/4480, Estonian)
G=0.0000 (0/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.0000 (0/2930, KOREAN)
G=0.000 (0/616, Vietnamese)
G=0.000 (0/600, NorthernSweden)
G=0.009 (5/558, SGDP_PRJ)
G=0.054 (29/534, MGP)
G=0.009 (3/324, HapMap)
G=0.000 (0/304, FINRISK)
G=0.009 (2/216, Qatari)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ATP8A2 : Synonymous 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	34394	G=0.21056	C=0.78944, T=0.00000
European	Sub	27142	G=0.21498	C=0.78502, T=0.00000
African	Sub	760	G=0.021	C=0.979, T=0.000
African Others	Sub	14	G=0.07	C=0.93, T=0.00
African American	Sub	746	G=0.020	C=0.980, T=0.000
Asian	Sub	60	G=0.00	C=1.00, T=0.00
East Asian	Sub	28	G=0.00	C=1.00, T=0.00
Other Asian	Sub	32	G=0.00	C=1.00, T=0.00
Latin American 1	Sub	354	G=0.014	C=0.986, T=0.000
Latin American 2	Sub	18	G=0.00	C=1.00, T=0.00
South Asian	Sub	4	G=0.0	C=1.0, T=0.0
Other	Sub	6056	G=0.2289	C=0.7711, T=0.0000

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	G=0.010325	C=0.989675
ExAC	Global	Study-wide	120722	G=0.002742	C=0.997258
ExAC	Europe	Sub	73338	G=0.00010	C=0.99990
ExAC	Asian	Sub	25106	G=0.00000	C=1.00000
ExAC	American	Sub	11562	G=0.00121	C=0.99879
ExAC	African	Sub	9816	G=0.0315	C=0.9685
ExAC	Other	Sub	900	G=0.001	C=0.999
Allele Frequency Aggregator	Total	Global	34394	G=0.21056	C=0.78944, T=0.00000
Allele Frequency Aggregator	European	Sub	27142	G=0.21498	C=0.78502, T=0.00000
Allele Frequency Aggregator	Other	Sub	6056	G=0.2289	C=0.7711, T=0.0000
Allele Frequency Aggregator	African	Sub	760	G=0.021	C=0.979, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	354	G=0.014	C=0.986, T=0.000
Allele Frequency Aggregator	Asian	Sub	60	G=0.00	C=1.00, T=0.00
Allele Frequency Aggregator	Latin American 2	Sub	18	G=0.00	C=1.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	4	G=0.0	C=1.0, T=0.0
14KJPN	JAPANESE	Study-wide	28258	G=0.00000	C=1.00000
8.3KJPN	JAPANESE	Study-wide	16760	G=0.00000	C=1.00000
GO Exome Sequencing Project	Global	Study-wide	12284	G=0.01018	C=0.98982
GO Exome Sequencing Project	European American	Sub	8326	G=0.0002	C=0.9998
GO Exome Sequencing Project	African American	Sub	3958	G=0.0311	C=0.9689
1000Genomes_30x	Global	Study-wide	6404	G=0.0126	C=0.9874
1000Genomes_30x	African	Sub	1786	G=0.0431	C=0.9569
1000Genomes_30x	Europe	Sub	1266	G=0.0000	C=1.0000
1000Genomes_30x	South Asian	Sub	1202	G=0.0000	C=1.0000
1000Genomes_30x	East Asian	Sub	1170	G=0.0000	C=1.0000
1000Genomes_30x	American	Sub	980	G=0.004	C=0.996
1000Genomes	Global	Study-wide	5008	G=0.0126	C=0.9874
1000Genomes	African	Sub	1322	G=0.0454	C=0.9546
1000Genomes	East Asian	Sub	1008	G=0.0000	C=1.0000
1000Genomes	Europe	Sub	1006	G=0.0000	C=1.0000
1000Genomes	South Asian	Sub	978	G=0.000	C=1.000
1000Genomes	American	Sub	694	G=0.004	C=0.996
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.0002	C=0.9998
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0000	C=1.0000
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0000	C=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.0000	C=1.0000
A Vietnamese Genetic Variation Database	Global	Study-wide	616	G=0.000	C=1.000
Northern Sweden	ACPOP	Study-wide	600	G=0.000	C=1.000
SGDP_PRJ	Global	Study-wide	558	G=0.009	C=0.991
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.054	C=0.946
HapMap	Global	Study-wide	324	G=0.009	C=0.991
HapMap	African	Sub	120	G=0.025	C=0.975
HapMap	American	Sub	116	G=0.000	C=1.000
HapMap	Asian	Sub	88	G=0.00	C=1.00
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.000	C=1.000
Qatari	Global	Study-wide	216	G=0.009	C=0.991
Siberian	Global	Study-wide	56	G=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	G=0.00	C=1.00

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 13	NC_000013.11:g.25699247G>C
GRCh38.p14 chr 13	NC_000013.11:g.25699247G>T
ATP8A2 RefSeqGene	NG_042855.1:g.332237G>C
ATP8A2 RefSeqGene	NG_042855.1:g.332237G>T
GRCh38.p14 chr 13 alt locus HSCHR13_1_CTG2	NT_187593.1:g.133421C>G
GRCh38.p14 chr 13 alt locus HSCHR13_1_CTG2	NT_187593.1:g.133421C>A
GRCh37.p13 chr 13	NC_000013.10:g.26273385G>C
GRCh37.p13 chr 13	NC_000013.10:g.26273385G>T

Gene: ATP8A2, ATPase phospholipid transporting 8A2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP8A2 transcript variant 2	NM_001313741.1:c.2166G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform 2	NP_001300670.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant 2	NM_001313741.1:c.2166G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform 2	NP_001300670.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant 1	NM_016529.6:c.2286G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform 1	NP_057613.4:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant 1	NM_016529.6:c.2286G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform 1	NP_057613.4:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X8	XM_017020625.3:c.	N/A	Genic Downstream Transcript Variant
ATP8A2 transcript variant X9	XM_017020626.2:c.	N/A	Genic Downstream Transcript Variant
ATP8A2 transcript variant X2	XM_011535104.3:c.2166G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X2	XP_011533406.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X2	XM_011535104.3:c.2166G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X2	XP_011533406.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X6	XM_024449369.1:c.1692G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X4	XP_024305137.1:p.Leu564=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X6	XM_024449369.1:c.1692G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X4	XP_024305137.1:p.Leu564=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X1	XM_011535103.2:c.2286G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X1	XP_011533405.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X1	XM_011535103.2:c.2286G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X1	XP_011533405.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X1	XM_005266419.2:c.2166G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X1	XP_005266476.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X1	XM_005266419.2:c.2166G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X1	XP_005266476.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X3	XM_047430383.1:c.2166G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X1	XP_047286339.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X3	XM_047430383.1:c.2166G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X1	XP_047286339.1:p.Leu722=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X5	XM_011535106.2:c.2286G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X4	XP_011533408.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X5	XM_011535106.2:c.2286G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X4	XP_011533408.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X4	XM_011535107.4:c.2286G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X8	XP_011533409.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X4	XM_011535107.4:c.2286G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X8	XP_011533409.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X5	XM_011535109.4:c.1806G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X3	XP_011533411.1:p.Leu602=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X5	XM_011535109.4:c.1806G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X3	XP_011533411.1:p.Leu602=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X7	XM_011535113.3:c.2286G>C	L [CTG] > L [CTC]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X5	XP_011533415.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous Variant
ATP8A2 transcript variant X7	XM_011535113.3:c.2286G>T	L [CTG] > L [CTT]	Coding Sequence Variant
phospholipid-transporting ATPase IB isoform X5	XP_011533415.1:p.Leu762=	L (Leu) > L (Leu)	Synonymous 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.

Allele: C (allele ID: 133939 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000116459.6	not specified	Likely-Benign
RCV001515675.6	not provided	Benign
RCV001554201.3	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	Benign

Allele: T (allele ID: 1592275 )

ClinVar Accession	Disease Names	Clinical Significance
RCV002168920.3	not provided	Likely-Benign

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=	C	T
GRCh38.p14 chr 13	NC_000013.11:g.25699247=	NC_000013.11:g.25699247G>C	NC_000013.11:g.25699247G>T
ATP8A2 RefSeqGene	NG_042855.1:g.332237=	NG_042855.1:g.332237G>C	NG_042855.1:g.332237G>T
ATP8A2 transcript variant 1	NM_016529.6:c.2286=	NM_016529.6:c.2286G>C	NM_016529.6:c.2286G>T
ATP8A2 transcript variant 1	NM_016529.5:c.2286=	NM_016529.5:c.2286G>C	NM_016529.5:c.2286G>T
ATP8A2 transcript	NM_016529.4:c.2286=	NM_016529.4:c.2286G>C	NM_016529.4:c.2286G>T
ATP8A2 transcript variant 3	NM_001411005.1:c.2286=	NM_001411005.1:c.2286G>C	NM_001411005.1:c.2286G>T
ATP8A2 transcript variant 2	NM_001313741.1:c.2166=	NM_001313741.1:c.2166G>C	NM_001313741.1:c.2166G>T
ATP8A2 transcript variant 4	NM_001411006.1:c.2286=	NM_001411006.1:c.2286G>C	NM_001411006.1:c.2286G>T
GRCh38.p14 chr 13 alt locus HSCHR13_1_CTG2	NT_187593.1:g.133421=	NT_187593.1:g.133421C>G	NT_187593.1:g.133421C>A
GRCh37.p13 chr 13	NC_000013.10:g.26273385=	NC_000013.10:g.26273385G>C	NC_000013.10:g.26273385G>T
ATP8A2 transcript variant X5	XM_011535109.4:c.1806=	XM_011535109.4:c.1806G>C	XM_011535109.4:c.1806G>T
ATP8A2 transcript variant X6	XM_011535109.3:c.1806=	XM_011535109.3:c.1806G>C	XM_011535109.3:c.1806G>T
ATP8A2 transcript variant X6	XM_011535109.2:c.1806=	XM_011535109.2:c.1806G>C	XM_011535109.2:c.1806G>T
ATP8A2 transcript variant X8	XM_011535109.1:c.1806=	XM_011535109.1:c.1806G>C	XM_011535109.1:c.1806G>T
ATP8A2 transcript variant X4	XM_011535107.4:c.2286=	XM_011535107.4:c.2286G>C	XM_011535107.4:c.2286G>T
ATP8A2 transcript variant X5	XM_011535107.3:c.2286=	XM_011535107.3:c.2286G>C	XM_011535107.3:c.2286G>T
ATP8A2 transcript variant X5	XM_011535107.2:c.2286=	XM_011535107.2:c.2286G>C	XM_011535107.2:c.2286G>T
ATP8A2 transcript variant X6	XM_011535107.1:c.2286=	XM_011535107.1:c.2286G>C	XM_011535107.1:c.2286G>T
ATP8A2 transcript variant X2	XM_011535104.3:c.2166=	XM_011535104.3:c.2166G>C	XM_011535104.3:c.2166G>T
ATP8A2 transcript variant X3	XM_011535104.2:c.2166=	XM_011535104.2:c.2166G>C	XM_011535104.2:c.2166G>T
ATP8A2 transcript variant X3	XM_011535104.1:c.2166=	XM_011535104.1:c.2166G>C	XM_011535104.1:c.2166G>T
ATP8A2 transcript variant X7	XM_011535113.3:c.2286=	XM_011535113.3:c.2286G>C	XM_011535113.3:c.2286G>T
ATP8A2 transcript variant X8	XM_011535113.2:c.2286=	XM_011535113.2:c.2286G>C	XM_011535113.2:c.2286G>T
ATP8A2 transcript variant X12	XM_011535113.1:c.2286=	XM_011535113.1:c.2286G>C	XM_011535113.1:c.2286G>T
ATP8A2 transcript variant X1	XM_011535103.2:c.2286=	XM_011535103.2:c.2286G>C	XM_011535103.2:c.2286G>T
ATP8A2 transcript variant X1	XM_005266419.2:c.2166=	XM_005266419.2:c.2166G>C	XM_005266419.2:c.2166G>T
ATP8A2 transcript variant X2	XM_005266419.1:c.2166=	XM_005266419.1:c.2166G>C	XM_005266419.1:c.2166G>T
ATP8A2 transcript variant X5	XM_011535106.2:c.2286=	XM_011535106.2:c.2286G>C	XM_011535106.2:c.2286G>T
ATP8A2 transcript variant X3	XM_047430383.1:c.2166=	XM_047430383.1:c.2166G>C	XM_047430383.1:c.2166G>T
ATP8A2 transcript variant X6	XM_024449369.1:c.1692=	XM_024449369.1:c.1692G>C	XM_024449369.1:c.1692G>T
phospholipid-transporting ATPase IB isoform 1	NP_057613.4:p.Leu762=	NP_057613.4:p.Leu762=	NP_057613.4:p.Leu762=
phospholipid-transporting ATPase IB isoform 2	NP_001300670.1:p.Leu722=	NP_001300670.1:p.Leu722=	NP_001300670.1:p.Leu722=
phospholipid-transporting ATPase IB isoform X3	XP_011533411.1:p.Leu602=	XP_011533411.1:p.Leu602=	XP_011533411.1:p.Leu602=
phospholipid-transporting ATPase IB isoform X8	XP_011533409.1:p.Leu762=	XP_011533409.1:p.Leu762=	XP_011533409.1:p.Leu762=
phospholipid-transporting ATPase IB isoform X2	XP_011533406.1:p.Leu722=	XP_011533406.1:p.Leu722=	XP_011533406.1:p.Leu722=
phospholipid-transporting ATPase IB isoform X5	XP_011533415.1:p.Leu762=	XP_011533415.1:p.Leu762=	XP_011533415.1:p.Leu762=
phospholipid-transporting ATPase IB isoform X1	XP_011533405.1:p.Leu762=	XP_011533405.1:p.Leu762=	XP_011533405.1:p.Leu762=
phospholipid-transporting ATPase IB isoform X1	XP_005266476.1:p.Leu722=	XP_005266476.1:p.Leu722=	XP_005266476.1:p.Leu722=
phospholipid-transporting ATPase IB isoform X4	XP_011533408.1:p.Leu762=	XP_011533408.1:p.Leu762=	XP_011533408.1:p.Leu762=
phospholipid-transporting ATPase IB isoform X1	XP_047286339.1:p.Leu722=	XP_047286339.1:p.Leu722=	XP_047286339.1:p.Leu722=
phospholipid-transporting ATPase IB isoform X4	XP_024305137.1:p.Leu564=	XP_024305137.1:p.Leu564=	XP_024305137.1:p.Leu564=

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#.

109 SubSNP, 25 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss11089614	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss12259461	Jul 11, 2003 (116)
3	SC_SNP	ss13160653	Dec 05, 2003 (119)
4	BCM_SSAHASNP	ss14157975	Dec 05, 2003 (119)
5	CSHL-HAPMAP	ss17503213	Feb 27, 2004 (120)
6	SSAHASNP	ss21091841	Apr 05, 2004 (121)
7	PERLEGEN	ss23733088	Sep 20, 2004 (123)
8	APPLERA_GI	ss48424801	Mar 15, 2006 (126)
9	HGSV	ss85190400	Dec 15, 2007 (130)
10	HGSV	ss86162975	Dec 15, 2007 (130)
11	HGSV	ss86172016	Dec 15, 2007 (130)
12	BCMHGSC_JDW	ss89543496	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss96952459	Feb 05, 2009 (130)
14	BGI	ss106320511	Feb 05, 2009 (130)
15	1000GENOMES	ss112626542	Jan 25, 2009 (130)
16	1000GENOMES	ss114433360	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss118392329	Feb 14, 2009 (130)
18	ENSEMBL	ss133491560	Dec 01, 2009 (131)
19	ENSEMBL	ss137281652	Dec 01, 2009 (131)
20	GMI	ss154550532	Dec 01, 2009 (131)
21	SEATTLESEQ	ss159727934	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss167737657	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss169001901	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss170896798	Jul 04, 2010 (132)
25	BUSHMAN	ss198985706	Jul 04, 2010 (132)
26	BCM-HGSC-SUB	ss208754940	Jul 04, 2010 (132)
27	1000GENOMES	ss226085874	Jul 14, 2010 (132)
28	1000GENOMES	ss236180736	Jul 15, 2010 (132)
29	BL	ss254863862	May 09, 2011 (134)
30	GMI	ss281644121	May 04, 2012 (137)
31	GMI	ss286670624	Apr 25, 2013 (138)
32	PJP	ss291559738	May 09, 2011 (134)
33	1000GENOMES	ss491057298	May 04, 2012 (137)
34	CLINSEQ_SNP	ss491677593	May 04, 2012 (137)
35	ILLUMINA	ss535644020	Sep 08, 2015 (146)
36	TISHKOFF	ss563556759	Apr 25, 2013 (138)
37	SSMP	ss659151956	Apr 25, 2013 (138)
38	NHLBI-ESP	ss713142953	Apr 25, 2013 (138)
39	JMKIDD_LAB	ss1067540378	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1078945548	Aug 21, 2014 (142)
41	1000GENOMES	ss1347532883	Aug 21, 2014 (142)
42	DDI	ss1427132503	Apr 01, 2015 (144)
43	CLINVAR	ss1457613531	Nov 23, 2014 (142)
44	EVA_GENOME_DK	ss1576679325	Apr 01, 2015 (144)
45	EVA_FINRISK	ss1584086243	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1629909399	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1672903432	Apr 01, 2015 (144)
48	EVA_EXAC	ss1691234523	Apr 01, 2015 (144)
49	EVA_MGP	ss1711353089	Apr 01, 2015 (144)
50	HAMMER_LAB	ss1807530635	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1933572684	Feb 12, 2016 (147)
52	GENOMED	ss1967737320	Jul 19, 2016 (147)
53	JJLAB	ss2027541104	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2155905422	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2194925243	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2628258413	Nov 08, 2017 (151)
57	GRF	ss2700277598	Nov 08, 2017 (151)
58	GNOMAD	ss2740327961	Nov 08, 2017 (151)
59	GNOMAD	ss2749022000	Nov 08, 2017 (151)
60	SWEGEN	ss3010738017	Nov 08, 2017 (151)
61	BIOINF_KMB_FNS_UNIBA	ss3027585439	Nov 08, 2017 (151)
62	CSHL	ss3350370639	Nov 08, 2017 (151)
63	ILLUMINA	ss3627024209	Oct 12, 2018 (152)
64	OMUKHERJEE_ADBS	ss3646451917	Oct 12, 2018 (152)
65	URBANLAB	ss3649990724	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3677999044	Jul 13, 2019 (153)
67	EVA_DECODE	ss3694946165	Jul 13, 2019 (153)
68	ACPOP	ss3739591912	Jul 13, 2019 (153)
69	EVA	ss3751248185	Jul 13, 2019 (153)
70	PACBIO	ss3787407366	Jul 13, 2019 (153)
71	PACBIO	ss3792480923	Jul 13, 2019 (153)
72	PACBIO	ss3797364634	Jul 13, 2019 (153)
73	KHV_HUMAN_GENOMES	ss3816579516	Jul 13, 2019 (153)
74	EVA	ss3824798117	Apr 27, 2020 (154)
75	EVA	ss3825834335	Apr 27, 2020 (154)
76	EVA	ss3833454022	Apr 27, 2020 (154)
77	EVA	ss3840303325	Apr 27, 2020 (154)
78	EVA	ss3845787889	Apr 27, 2020 (154)
79	SGDP_PRJ	ss3879614660	Apr 27, 2020 (154)
80	KRGDB	ss3928433509	Apr 27, 2020 (154)
81	FSA-LAB	ss3984044139	Apr 26, 2021 (155)
82	EVA	ss3986062216	Apr 26, 2021 (155)
83	EVA	ss3986597375	Apr 26, 2021 (155)
84	VINODS	ss4030981235	Apr 26, 2021 (155)
85	TOPMED	ss4940265525	Apr 26, 2021 (155)
86	TOMMO_GENOMICS	ss5209221790	Apr 26, 2021 (155)
87	EVA	ss5236911947	Apr 26, 2021 (155)
88	EVA	ss5237223434	Apr 26, 2021 (155)
89	EVA	ss5237661306	Oct 16, 2022 (156)
90	1000G_HIGH_COVERAGE	ss5293131318	Oct 16, 2022 (156)
91	TRAN_CS_UWATERLOO	ss5314437324	Oct 16, 2022 (156)
92	EVA	ss5409667492	Oct 16, 2022 (156)
93	HUGCELL_USP	ss5487553772	Oct 16, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5591781082	Oct 16, 2022 (156)
95	EVA	ss5623960156	Oct 16, 2022 (156)
96	EVA	ss5624039566	Oct 16, 2022 (156)
97	SANFORD_IMAGENETICS	ss5654422013	Oct 16, 2022 (156)
98	TOMMO_GENOMICS	ss5760875325	Oct 16, 2022 (156)
99	EVA	ss5800066005	Oct 16, 2022 (156)
100	EVA	ss5800182867	Oct 16, 2022 (156)
101	YY_MCH	ss5813959874	Oct 16, 2022 (156)
102	EVA	ss5839235781	Oct 16, 2022 (156)
103	EVA	ss5848370234	Oct 16, 2022 (156)
104	EVA	ss5850652429	Oct 16, 2022 (156)
105	EVA	ss5924408389	Oct 16, 2022 (156)
106	EVA	ss5936555456	Oct 16, 2022 (156)
107	EVA	ss5945826431	Oct 16, 2022 (156)
108	EVA	ss5980780619	Oct 16, 2022 (156)
109	EVA	ss5981280292	Oct 16, 2022 (156)
110	1000Genomes	NC_000013.10 - 26273385	Oct 12, 2018 (152)
111	1000Genomes_30x	NC_000013.11 - 25699247	Oct 16, 2022 (156)
112	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 26273385	Oct 12, 2018 (152)
113	Genetic variation in the Estonian population	NC_000013.10 - 26273385	Oct 12, 2018 (152)
114	ExAC	NC_000013.10 - 26273385	Oct 12, 2018 (152)
115	FINRISK	NC_000013.10 - 26273385	Apr 27, 2020 (154)
116	The Danish reference pan genome	NC_000013.10 - 26273385	Apr 27, 2020 (154)
117	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425775777 (NC_000013.11:25699246:G:C 138934/140272) Row 425775778 (NC_000013.11:25699246:G:T 1/140278)	-	Apr 26, 2021 (155)
118	gnomAD - Genomes Submission ignored due to conflicting rows: Row 425775777 (NC_000013.11:25699246:G:C 138934/140272) Row 425775778 (NC_000013.11:25699246:G:T 1/140278)	-	Apr 26, 2021 (155)
119	gnomAD - Exomes Submission ignored due to conflicting rows: Row 9569858 (NC_000013.10:26273384:G:G 586/249046, NC_000013.10:26273384:G:C 248460/249046) Row 9569859 (NC_000013.10:26273384:G:G 249045/249046, NC_000013.10:26273384:G:T 1/249046)	-	Jul 13, 2019 (153)
120	gnomAD - Exomes Submission ignored due to conflicting rows: Row 9569858 (NC_000013.10:26273384:G:G 586/249046, NC_000013.10:26273384:G:C 248460/249046) Row 9569859 (NC_000013.10:26273384:G:G 249045/249046, NC_000013.10:26273384:G:T 1/249046)	-	Jul 13, 2019 (153)
121	GO Exome Sequencing Project	NC_000013.10 - 26273385	Oct 12, 2018 (152)
122	HapMap	NC_000013.11 - 25699247	Apr 27, 2020 (154)
123	KOREAN population from KRGDB	NC_000013.10 - 26273385	Apr 27, 2020 (154)
124	Medical Genome Project healthy controls from Spanish population	NC_000013.10 - 26273385	Apr 27, 2020 (154)
125	Northern Sweden	NC_000013.10 - 26273385	Jul 13, 2019 (153)
126	Qatari	NC_000013.10 - 26273385	Apr 27, 2020 (154)
127	SGDP_PRJ	NC_000013.10 - 26273385	Apr 27, 2020 (154)
128	Siberian	NC_000013.10 - 26273385	Apr 27, 2020 (154)
129	8.3KJPN	NC_000013.10 - 26273385	Apr 26, 2021 (155)
130	14KJPN	NC_000013.11 - 25699247	Oct 16, 2022 (156)
131	TopMed	NC_000013.11 - 25699247	Apr 26, 2021 (155)
132	UK 10K study - Twins	NC_000013.10 - 26273385	Oct 12, 2018 (152)
133	A Vietnamese Genetic Variation Database	NC_000013.10 - 26273385	Jul 13, 2019 (153)
134	ALFA	NC_000013.11 - 25699247	Apr 26, 2021 (155)
135	ClinVar	RCV000116459.6	Oct 16, 2022 (156)
136	ClinVar	RCV001515675.6	Oct 16, 2022 (156)
137	ClinVar	RCV001554201.3	Oct 16, 2022 (156)
138	ClinVar	RCV002168920.3	Oct 16, 2022 (156)

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)
rs59648986	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85190400, ss86162975, ss86172016, ss89543496, ss112626542, ss114433360, ss118392329, ss167737657, ss169001901, ss170896798, ss198985706, ss208754940, ss254863862, ss281644121, ss286670624, ss291559738, ss491677593	NC_000013.9:25171384:G:C	NC_000013.11:25699246:G:C	(self)
60377838, 33531053, 23737292, 1558858, 82704, 3224429, 1255508, 35610903, 468849, 12876777, 15614614, 31631640, 8421776, 67191097, 33531053, 7438288, ss226085874, ss236180736, ss491057298, ss535644020, ss563556759, ss659151956, ss713142953, ss1067540378, ss1078945548, ss1347532883, ss1427132503, ss1576679325, ss1584086243, ss1629909399, ss1672903432, ss1691234523, ss1711353089, ss1807530635, ss1933572684, ss1967737320, ss2027541104, ss2155905422, ss2628258413, ss2700277598, ss2740327961, ss2749022000, ss3010738017, ss3350370639, ss3627024209, ss3646451917, ss3677999044, ss3739591912, ss3751248185, ss3787407366, ss3792480923, ss3797364634, ss3824798117, ss3825834335, ss3833454022, ss3840303325, ss3879614660, ss3928433509, ss3984044139, ss3986062216, ss3986597375, ss5209221790, ss5409667492, ss5623960156, ss5624039566, ss5654422013, ss5800066005, ss5800182867, ss5839235781, ss5848370234, ss5936555456, ss5945826431, ss5980780619, ss5981280292	NC_000013.10:26273384:G:C	NC_000013.11:25699246:G:C	(self)
RCV000116459.6, RCV001515675.6, RCV001554201.3, 79307017, 950111, 94712429, 155811183, 12677670776, ss1457613531, ss2194925243, ss3027585439, ss3649990724, ss3694946165, ss3816579516, ss3845787889, ss4940265525, ss5236911947, ss5237223434, ss5237661306, ss5293131318, ss5314437324, ss5487553772, ss5591781082, ss5760875325, ss5813959874, ss5850652429, ss5924408389	NC_000013.11:25699246:G:C	NC_000013.11:25699246:G:C	(self)
ss11089614, ss12259461, ss13160653	NT_009799.12:7253384:G:C	NC_000013.11:25699246:G:C	(self)
ss14157975, ss17503213, ss21091841	NT_024524.13:7253384:G:C	NC_000013.11:25699246:G:C	(self)
ss23733088, ss48424801, ss96952459, ss106320511, ss133491560, ss137281652, ss154550532, ss159727934	NT_024524.14:7253384:G:C	NC_000013.11:25699246:G:C	(self)
ss4030981235	NT_187593.1:133420:C:G	NC_000013.11:25699246:G:C	(self)
ss2740327961	NC_000013.10:26273384:G:T	NC_000013.11:25699246:G:T	(self)
RCV002168920.3, 12677670776	NC_000013.11:25699246:G:T	NC_000013.11:25699246:G:T	(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 rs6491088

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

rs6491088