Name: rs7168944
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.

rs7168944

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:50113047 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.327368 (86651/264690, TOPMED)
T=0.316736 (44293/139842, GnomAD)
T=0.25740 (18379/71402, ALFA) (+ 19 more)
C=0.34578 (9771/28258, 14KJPN)
C=0.34415 (5768/16760, 8.3KJPN)
T=0.4171 (2671/6404, 1000G_30x)
T=0.4205 (2106/5008, 1000G)
T=0.2866 (1284/4480, Estonian)
T=0.2250 (867/3854, ALSPAC)
T=0.2392 (887/3708, TWINSUK)
C=0.3505 (1027/2930, KOREAN)
T=0.3997 (833/2084, HGDP_Stanford)
T=0.4112 (778/1892, HapMap)
C=0.3504 (642/1832, Korea1K)
T=0.231 (231/998, GoNL)
T=0.257 (154/600, NorthernSweden)
C=0.305 (103/338, SGDP_PRJ)
T=0.194 (42/216, Qatari)
C=0.340 (72/212, Vietnamese)
T=0.14 (14/100, Ancient Sardinia)
T=0.23 (9/40, GENOME_DK)
C=0.47 (17/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATP8B4 : 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	71402	C=0.74260	T=0.25740
European	Sub	58774	C=0.76425	T=0.23575
African	Sub	4526	C=0.5988	T=0.4012
African Others	Sub	170	C=0.594	T=0.406
African American	Sub	4356	C=0.5989	T=0.4011
Asian	Sub	190	C=0.337	T=0.663
East Asian	Sub	148	C=0.311	T=0.689
Other Asian	Sub	42	C=0.43	T=0.57
Latin American 1	Sub	254	C=0.654	T=0.346
Latin American 2	Sub	1232	C=0.5560	T=0.4440
South Asian	Sub	4956	C=0.6919	T=0.3081
Other	Sub	1470	C=0.7150	T=0.2850

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=0.672632	T=0.327368
gnomAD - Genomes	Global	Study-wide	139842	C=0.683264	T=0.316736
gnomAD - Genomes	European	Sub	75776	C=0.74400	T=0.25600
gnomAD - Genomes	African	Sub	41842	C=0.59868	T=0.40132
gnomAD - Genomes	American	Sub	13628	C=0.63898	T=0.36102
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.8702	T=0.1298
gnomAD - Genomes	East Asian	Sub	3124	C=0.3374	T=0.6626
gnomAD - Genomes	Other	Sub	2152	C=0.6836	T=0.3164
Allele Frequency Aggregator	Total	Global	71402	C=0.74260	T=0.25740
Allele Frequency Aggregator	European	Sub	58774	C=0.76425	T=0.23575
Allele Frequency Aggregator	South Asian	Sub	4956	C=0.6919	T=0.3081
Allele Frequency Aggregator	African	Sub	4526	C=0.5988	T=0.4012
Allele Frequency Aggregator	Other	Sub	1470	C=0.7150	T=0.2850
Allele Frequency Aggregator	Latin American 2	Sub	1232	C=0.5560	T=0.4440
Allele Frequency Aggregator	Latin American 1	Sub	254	C=0.654	T=0.346
Allele Frequency Aggregator	Asian	Sub	190	C=0.337	T=0.663
14KJPN	JAPANESE	Study-wide	28258	C=0.34578	T=0.65422
8.3KJPN	JAPANESE	Study-wide	16760	C=0.34415	T=0.65585
1000Genomes_30x	Global	Study-wide	6404	C=0.5829	T=0.4171
1000Genomes_30x	African	Sub	1786	C=0.5655	T=0.4345
1000Genomes_30x	Europe	Sub	1266	C=0.7654	T=0.2346
1000Genomes_30x	South Asian	Sub	1202	C=0.6290	T=0.3710
1000Genomes_30x	East Asian	Sub	1170	C=0.3658	T=0.6342
1000Genomes_30x	American	Sub	980	C=0.582	T=0.418
1000Genomes	Global	Study-wide	5008	C=0.5795	T=0.4205
1000Genomes	African	Sub	1322	C=0.5688	T=0.4312
1000Genomes	East Asian	Sub	1008	C=0.3571	T=0.6429
1000Genomes	Europe	Sub	1006	C=0.7604	T=0.2396
1000Genomes	South Asian	Sub	978	C=0.634	T=0.366
1000Genomes	American	Sub	694	C=0.584	T=0.416
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7134	T=0.2866
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7750	T=0.2250
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7608	T=0.2392
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3505	G=0.0000, T=0.6495
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.6003	T=0.3997
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.383	T=0.617
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.708	T=0.292
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.846	T=0.154
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.784	T=0.216
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.620	T=0.380
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.306	T=0.694
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.21	T=0.79
HapMap	Global	Study-wide	1892	C=0.5888	T=0.4112
HapMap	American	Sub	770	C=0.613	T=0.387
HapMap	African	Sub	692	C=0.574	T=0.426
HapMap	Asian	Sub	254	C=0.366	T=0.634
HapMap	Europe	Sub	176	C=0.864	T=0.136
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3504	T=0.6496
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.769	T=0.231
Northern Sweden	ACPOP	Study-wide	600	C=0.743	T=0.257
SGDP_PRJ	Global	Study-wide	338	C=0.305	T=0.695
Qatari	Global	Study-wide	216	C=0.806	T=0.194
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.340	T=0.660
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	100	C=0.86	T=0.14
The Danish reference pan genome	Danish	Study-wide	40	C=0.78	T=0.23
Siberian	Global	Study-wide	36	C=0.47	T=0.53

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 15	NC_000015.10:g.50113047C>G
GRCh38.p14 chr 15	NC_000015.10:g.50113047C>T
GRCh37.p13 chr 15	NC_000015.9:g.50405244C>G
GRCh37.p13 chr 15	NC_000015.9:g.50405244C>T

Gene: ATP8B4, ATPase phospholipid transporting 8B4 (putative) (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP8B4 transcript variant 1	NM_024837.4:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant 2	NR_073596.2:n.	N/A	Intron Variant
ATP8B4 transcript variant 3	NR_073597.2:n.	N/A	Intron Variant
ATP8B4 transcript variant 4	NR_073598.2:n.	N/A	Intron Variant
ATP8B4 transcript variant X1	XM_011522046.3:c.-24+151G… XM_011522046.3:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X3	XM_011522047.3:c.-42-6039… XM_011522047.3:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X6	XM_011522048.2:c.-42-6039… XM_011522048.2:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X5	XM_011522049.3:c.-43+151G… XM_011522049.3:c.-43+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X7	XM_011522052.4:c.-42-6039… XM_011522052.4:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X4	XM_011522053.2:c.-43+1379… XM_011522053.2:c.-43+1379G>C	N/A	Intron Variant
ATP8B4 transcript variant X21	XM_011522056.4:c.-42-6039… XM_011522056.4:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X24	XM_011522058.4:c.-25+6605… XM_011522058.4:c.-25+6605G>C	N/A	Intron Variant
ATP8B4 transcript variant X13	XM_017022587.3:c.-42-6039… XM_017022587.3:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X2	XM_024450065.2:c.-24+151G… XM_024450065.2:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X10	XM_024450066.2:c.-24+151G… XM_024450066.2:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X11	XM_024450067.2:c.-24+151G… XM_024450067.2:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X32	XM_024450068.2:c.-24+151G… XM_024450068.2:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X42	XM_024450070.2:c.-24+151G… XM_024450070.2:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X8	XM_047433082.1:c.-42-6039… XM_047433082.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X12	XM_047433083.1:c.-42-6039… XM_047433083.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X14	XM_047433084.1:c.-24+151G… XM_047433084.1:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X15	XM_047433085.1:c.-24+151G… XM_047433085.1:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X16	XM_047433086.1:c.-24+151G… XM_047433086.1:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X17	XM_047433087.1:c.-24+151G… XM_047433087.1:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X18	XM_047433088.1:c.-42-6039… XM_047433088.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X19	XM_047433089.1:c.-42-6039… XM_047433089.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X20	XM_047433090.1:c.-42-6039… XM_047433090.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X22	XM_047433091.1:c.-24+151G… XM_047433091.1:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X31	XM_047433093.1:c.-42-6039… XM_047433093.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X33	XM_047433094.1:c.-42-6039… XM_047433094.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X34	XM_047433096.1:c.-42-6039… XM_047433096.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X39	XM_047433099.1:c.-42-6039… XM_047433099.1:c.-42-6039G>C	N/A	Intron Variant
ATP8B4 transcript variant X40	XM_047433100.1:c.-24+151G… XM_047433100.1:c.-24+151G>C	N/A	Intron Variant
ATP8B4 transcript variant X9	XM_017022591.2:c.-167=	N/A	5 Prime UTR Variant
ATP8B4 transcript variant X25	XM_011522059.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X26	XM_011522060.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X27	XM_011522061.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X28	XM_011522062.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X29	XM_011522063.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X38	XM_011522069.2:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X41	XM_011522070.2:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X23	XM_017022594.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X35	XM_024450069.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X30	XM_047433092.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X36	XM_047433097.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X37	XM_047433098.1:c.	N/A	Genic Upstream Transcript Variant
ATP8B4 transcript variant X43	XR_002957687.2: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	C=	G	T
GRCh38.p14 chr 15	NC_000015.10:g.50113047=	NC_000015.10:g.50113047C>G	NC_000015.10:g.50113047C>T
GRCh37.p13 chr 15	NC_000015.9:g.50405244=	NC_000015.9:g.50405244C>G	NC_000015.9:g.50405244C>T
ATP8B4 transcript variant X9	XM_017022591.2:c.-167=	XM_017022591.2:c.-167G>C	XM_017022591.2:c.-167G>A
ATP8B4 transcript variant X9	XM_017022591.1:c.-167=	XM_017022591.1:c.-167G>C	XM_017022591.1:c.-167G>A
ATP8B4 transcript variant 1	NM_024837.3:c.-42-6039=	NM_024837.3:c.-42-6039G>C	NM_024837.3:c.-42-6039G>A
ATP8B4 transcript variant 1	NM_024837.4:c.-42-6039=	NM_024837.4:c.-42-6039G>C	NM_024837.4:c.-42-6039G>A
ATP8B4 transcript variant X1	XM_011522046.3:c.-24+151=	XM_011522046.3:c.-24+151G>C	XM_011522046.3:c.-24+151G>A
ATP8B4 transcript variant X3	XM_011522047.3:c.-42-6039=	XM_011522047.3:c.-42-6039G>C	XM_011522047.3:c.-42-6039G>A
ATP8B4 transcript variant X6	XM_011522048.2:c.-42-6039=	XM_011522048.2:c.-42-6039G>C	XM_011522048.2:c.-42-6039G>A
ATP8B4 transcript variant X5	XM_011522049.3:c.-43+151=	XM_011522049.3:c.-43+151G>C	XM_011522049.3:c.-43+151G>A
ATP8B4 transcript variant X7	XM_011522052.4:c.-42-6039=	XM_011522052.4:c.-42-6039G>C	XM_011522052.4:c.-42-6039G>A
ATP8B4 transcript variant X4	XM_011522053.2:c.-43+1379=	XM_011522053.2:c.-43+1379G>C	XM_011522053.2:c.-43+1379G>A
ATP8B4 transcript variant X21	XM_011522056.4:c.-42-6039=	XM_011522056.4:c.-42-6039G>C	XM_011522056.4:c.-42-6039G>A
ATP8B4 transcript variant X24	XM_011522058.4:c.-25+6605=	XM_011522058.4:c.-25+6605G>C	XM_011522058.4:c.-25+6605G>A
ATP8B4 transcript variant X13	XM_017022587.3:c.-42-6039=	XM_017022587.3:c.-42-6039G>C	XM_017022587.3:c.-42-6039G>A
ATP8B4 transcript variant X2	XM_024450065.2:c.-24+151=	XM_024450065.2:c.-24+151G>C	XM_024450065.2:c.-24+151G>A
ATP8B4 transcript variant X10	XM_024450066.2:c.-24+151=	XM_024450066.2:c.-24+151G>C	XM_024450066.2:c.-24+151G>A
ATP8B4 transcript variant X11	XM_024450067.2:c.-24+151=	XM_024450067.2:c.-24+151G>C	XM_024450067.2:c.-24+151G>A
ATP8B4 transcript variant X32	XM_024450068.2:c.-24+151=	XM_024450068.2:c.-24+151G>C	XM_024450068.2:c.-24+151G>A
ATP8B4 transcript variant X42	XM_024450070.2:c.-24+151=	XM_024450070.2:c.-24+151G>C	XM_024450070.2:c.-24+151G>A
ATP8B4 transcript variant X8	XM_047433082.1:c.-42-6039=	XM_047433082.1:c.-42-6039G>C	XM_047433082.1:c.-42-6039G>A
ATP8B4 transcript variant X12	XM_047433083.1:c.-42-6039=	XM_047433083.1:c.-42-6039G>C	XM_047433083.1:c.-42-6039G>A
ATP8B4 transcript variant X14	XM_047433084.1:c.-24+151=	XM_047433084.1:c.-24+151G>C	XM_047433084.1:c.-24+151G>A
ATP8B4 transcript variant X15	XM_047433085.1:c.-24+151=	XM_047433085.1:c.-24+151G>C	XM_047433085.1:c.-24+151G>A
ATP8B4 transcript variant X16	XM_047433086.1:c.-24+151=	XM_047433086.1:c.-24+151G>C	XM_047433086.1:c.-24+151G>A
ATP8B4 transcript variant X17	XM_047433087.1:c.-24+151=	XM_047433087.1:c.-24+151G>C	XM_047433087.1:c.-24+151G>A
ATP8B4 transcript variant X18	XM_047433088.1:c.-42-6039=	XM_047433088.1:c.-42-6039G>C	XM_047433088.1:c.-42-6039G>A
ATP8B4 transcript variant X19	XM_047433089.1:c.-42-6039=	XM_047433089.1:c.-42-6039G>C	XM_047433089.1:c.-42-6039G>A
ATP8B4 transcript variant X20	XM_047433090.1:c.-42-6039=	XM_047433090.1:c.-42-6039G>C	XM_047433090.1:c.-42-6039G>A
ATP8B4 transcript variant X22	XM_047433091.1:c.-24+151=	XM_047433091.1:c.-24+151G>C	XM_047433091.1:c.-24+151G>A
ATP8B4 transcript variant X31	XM_047433093.1:c.-42-6039=	XM_047433093.1:c.-42-6039G>C	XM_047433093.1:c.-42-6039G>A
ATP8B4 transcript variant X33	XM_047433094.1:c.-42-6039=	XM_047433094.1:c.-42-6039G>C	XM_047433094.1:c.-42-6039G>A
ATP8B4 transcript variant X34	XM_047433096.1:c.-42-6039=	XM_047433096.1:c.-42-6039G>C	XM_047433096.1:c.-42-6039G>A
ATP8B4 transcript variant X39	XM_047433099.1:c.-42-6039=	XM_047433099.1:c.-42-6039G>C	XM_047433099.1:c.-42-6039G>A
ATP8B4 transcript variant X40	XM_047433100.1:c.-24+151=	XM_047433100.1:c.-24+151G>C	XM_047433100.1:c.-24+151G>A

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

86 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10775565	Jul 11, 2003 (116)
2	ILLUMINA	ss66657837	Dec 01, 2006 (127)
3	ILLUMINA	ss67550395	Dec 01, 2006 (127)
4	ILLUMINA	ss67924926	Dec 01, 2006 (127)
5	ILLUMINA	ss70913238	May 25, 2008 (130)
6	ILLUMINA	ss71511348	May 18, 2007 (127)
7	ILLUMINA	ss75544207	Dec 06, 2007 (129)
8	HGSV	ss77593163	Dec 06, 2007 (129)
9	ILLUMINA	ss79248392	Dec 15, 2007 (130)
10	KRIBB_YJKIM	ss84629442	Dec 15, 2007 (130)
11	BCMHGSC_JDW	ss90150245	Mar 24, 2008 (129)
12	1000GENOMES	ss108801452	Jan 23, 2009 (130)
13	ILLUMINA-UK	ss118220524	Feb 14, 2009 (130)
14	ILLUMINA	ss122705239	Dec 01, 2009 (131)
15	ENSEMBL	ss134280326	Dec 01, 2009 (131)
16	ILLUMINA	ss154409544	Dec 01, 2009 (131)
17	GMI	ss156520318	Dec 01, 2009 (131)
18	ILLUMINA	ss159584649	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss167970898	Jul 04, 2010 (132)
20	ILLUMINA	ss172255241	Jul 04, 2010 (132)
21	ILLUMINA	ss174271923	Jul 04, 2010 (132)
22	BUSHMAN	ss200824786	Jul 04, 2010 (132)
23	1000GENOMES	ss226885214	Jul 14, 2010 (132)
24	1000GENOMES	ss236772666	Jul 15, 2010 (132)
25	1000GENOMES	ss243160411	Jul 15, 2010 (132)
26	BL	ss254968294	May 09, 2011 (134)
27	GMI	ss282249100	May 04, 2012 (137)
28	PJP	ss291717284	May 09, 2011 (134)
29	ILLUMINA	ss537444500	Sep 08, 2015 (146)
30	TISHKOFF	ss564472710	Apr 25, 2013 (138)
31	SSMP	ss660194076	Apr 25, 2013 (138)
32	ILLUMINA	ss825578910	Apr 01, 2015 (144)
33	ILLUMINA	ss833095688	Jul 13, 2019 (153)
34	EVA-GONL	ss991771902	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1080113859	Aug 21, 2014 (142)
36	1000GENOMES	ss1353409489	Aug 21, 2014 (142)
37	DDI	ss1427621071	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1577605664	Apr 01, 2015 (144)
39	EVA_UK10K_ALSPAC	ss1632967775	Apr 01, 2015 (144)
40	EVA_UK10K_TWINSUK	ss1675961808	Apr 01, 2015 (144)
41	EVA_DECODE	ss1695788771	Apr 01, 2015 (144)
42	EVA_SVP	ss1713488709	Apr 01, 2015 (144)
43	HAMMER_LAB	ss1808197357	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1935175108	Feb 12, 2016 (147)
45	GENOMED	ss1968102936	Jul 19, 2016 (147)
46	JJLAB	ss2028366970	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2156768295	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2206663529	Dec 20, 2016 (150)
49	SYSTEMSBIOZJU	ss2628677675	Nov 08, 2017 (151)
50	GRF	ss2701237615	Nov 08, 2017 (151)
51	GNOMAD	ss2934751140	Nov 08, 2017 (151)
52	SWEGEN	ss3013259699	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3028006551	Nov 08, 2017 (151)
54	CSHL	ss3351108476	Nov 08, 2017 (151)
55	ILLUMINA	ss3627357659	Oct 12, 2018 (152)
56	ILLUMINA	ss3638084753	Oct 12, 2018 (152)
57	ILLUMINA	ss3639055446	Oct 12, 2018 (152)
58	ILLUMINA	ss3639533000	Oct 12, 2018 (152)
59	ILLUMINA	ss3643069028	Oct 12, 2018 (152)
60	EGCUT_WGS	ss3680401343	Jul 13, 2019 (153)
61	EVA_DECODE	ss3697864630	Jul 13, 2019 (153)
62	ACPOP	ss3740910856	Jul 13, 2019 (153)
63	EVA	ss3753067286	Jul 13, 2019 (153)
64	KHV_HUMAN_GENOMES	ss3818385262	Jul 13, 2019 (153)
65	EVA	ss3834226906	Apr 27, 2020 (154)
66	EVA	ss3840711832	Apr 27, 2020 (154)
67	EVA	ss3846200372	Apr 27, 2020 (154)
68	HGDP	ss3847523077	Apr 27, 2020 (154)
69	SGDP_PRJ	ss3882888264	Apr 27, 2020 (154)
70	KRGDB	ss3932049741	Apr 27, 2020 (154)
71	KOGIC	ss3976113542	Apr 27, 2020 (154)
72	EVA	ss3985715664	Apr 26, 2021 (155)
73	EVA	ss4017701052	Apr 26, 2021 (155)
74	TOPMED	ss4990917830	Apr 26, 2021 (155)
75	TOMMO_GENOMICS	ss5216130692	Apr 26, 2021 (155)
76	1000G_HIGH_COVERAGE	ss5298393534	Oct 17, 2022 (156)
77	EVA	ss5419151201	Oct 17, 2022 (156)
78	HUGCELL_USP	ss5492127200	Oct 17, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5599775513	Oct 17, 2022 (156)
80	SANFORD_IMAGENETICS	ss5657482388	Oct 17, 2022 (156)
81	TOMMO_GENOMICS	ss5769918531	Oct 17, 2022 (156)
82	YY_MCH	ss5815320459	Oct 17, 2022 (156)
83	EVA	ss5828182905	Oct 17, 2022 (156)
84	EVA	ss5851286983	Oct 17, 2022 (156)
85	EVA	ss5875821778	Oct 17, 2022 (156)
86	EVA	ss5948882043	Oct 17, 2022 (156)
87	1000Genomes	NC_000015.9 - 50405244	Oct 12, 2018 (152)
88	1000Genomes_30x	NC_000015.10 - 50113047	Oct 17, 2022 (156)
89	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 50405244	Oct 12, 2018 (152)
90	Genetic variation in the Estonian population	NC_000015.9 - 50405244	Oct 12, 2018 (152)
91	The Danish reference pan genome	NC_000015.9 - 50405244	Apr 27, 2020 (154)
92	gnomAD - Genomes	NC_000015.10 - 50113047	Apr 26, 2021 (155)
93	Genome of the Netherlands Release 5	NC_000015.9 - 50405244	Apr 27, 2020 (154)
94	HGDP-CEPH-db Supplement 1	NC_000015.8 - 48192536	Apr 27, 2020 (154)
95	HapMap	NC_000015.10 - 50113047	Apr 27, 2020 (154)
96	KOREAN population from KRGDB	NC_000015.9 - 50405244	Apr 27, 2020 (154)
97	Korean Genome Project	NC_000015.10 - 50113047	Apr 27, 2020 (154)
98	Northern Sweden	NC_000015.9 - 50405244	Jul 13, 2019 (153)
99	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 50405244	Apr 26, 2021 (155)
100	Qatari	NC_000015.9 - 50405244	Apr 27, 2020 (154)
101	SGDP_PRJ	NC_000015.9 - 50405244	Apr 27, 2020 (154)
102	Siberian	NC_000015.9 - 50405244	Apr 27, 2020 (154)
103	8.3KJPN	NC_000015.9 - 50405244	Apr 26, 2021 (155)
104	14KJPN	NC_000015.10 - 50113047	Oct 17, 2022 (156)
105	TopMed	NC_000015.10 - 50113047	Apr 26, 2021 (155)
106	UK 10K study - Twins	NC_000015.9 - 50405244	Oct 12, 2018 (152)
107	A Vietnamese Genetic Variation Database	NC_000015.9 - 50405244	Jul 13, 2019 (153)
108	ALFA	NC_000015.10 - 50113047	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)
rs59500466	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
39227135, ss3932049741	NC_000015.9:50405243:C:G	NC_000015.10:50113046:C:G	(self)
200969, ss77593163, ss90150245, ss108801452, ss118220524, ss167970898, ss200824786, ss254968294, ss282249100, ss291717284, ss825578910, ss1695788771, ss1713488709, ss3639055446, ss3639533000, ss3643069028, ss3847523077	NC_000015.8:48192535:C:T	NC_000015.10:50113046:C:T	(self)
66479477, 36903284, 26139591, 3850154, 16480764, 39227135, 14195721, 941591, 17217038, 34905244, 9284649, 74099999, 36903284, 8209738, ss226885214, ss236772666, ss243160411, ss537444500, ss564472710, ss660194076, ss833095688, ss991771902, ss1080113859, ss1353409489, ss1427621071, ss1577605664, ss1632967775, ss1675961808, ss1808197357, ss1935175108, ss1968102936, ss2028366970, ss2156768295, ss2628677675, ss2701237615, ss2934751140, ss3013259699, ss3351108476, ss3627357659, ss3638084753, ss3680401343, ss3740910856, ss3753067286, ss3834226906, ss3840711832, ss3882888264, ss3932049741, ss3985715664, ss4017701052, ss5216130692, ss5419151201, ss5657482388, ss5828182905, ss5948882043	NC_000015.9:50405243:C:T	NC_000015.10:50113046:C:T	(self)
87301448, 468677572, 1260583, 32491543, 103755635, 206463490, 10284331393, ss2206663529, ss3028006551, ss3697864630, ss3818385262, ss3846200372, ss3976113542, ss4990917830, ss5298393534, ss5492127200, ss5599775513, ss5769918531, ss5815320459, ss5851286983, ss5875821778	NC_000015.10:50113046:C:T	NC_000015.10:50113046:C:T	(self)
ss10775565	NT_010194.15:21194854:C:T	NC_000015.10:50113046:C:T	(self)
ss66657837, ss67550395, ss67924926, ss70913238, ss71511348, ss75544207, ss79248392, ss84629442, ss122705239, ss134280326, ss154409544, ss156520318, ss159584649, ss172255241, ss174271923	NT_010194.17:21195800:C:T	NC_000015.10:50113046:C: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 rs7168944

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

rs7168944