Name: rs4632079
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.

rs4632079

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:49926757 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.229646 (60785/264690, TOPMED)
A=0.248304 (34770/140030, GnomAD)
A=0.00032 (9/28258, 14KJPN) (+ 15 more)
A=0.26998 (5100/18890, ALFA)
A=0.00042 (7/16760, 8.3KJPN)
A=0.1485 (951/6404, 1000G_30x)
A=0.1486 (744/5008, 1000G)
A=0.2743 (1229/4480, Estonian)
A=0.3386 (1305/3854, ALSPAC)
A=0.3236 (1200/3708, TWINSUK)
A=0.0007 (2/2922, KOREAN)
A=0.323 (322/998, GoNL)
A=0.335 (201/600, NorthernSweden)
A=0.282 (61/216, Qatari)
C=0.398 (47/118, SGDP_PRJ)
A=0.42 (17/40, GENOME_DK)
C=0.50 (11/22, Siberian)
A=0.50 (11/22, 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	18890	C=0.73002	A=0.26998
European	Sub	14286	C=0.69852	A=0.30148
African	Sub	2946	C=0.8496	A=0.1504
African Others	Sub	114	C=0.939	A=0.061
African American	Sub	2832	C=0.8460	A=0.1540
Asian	Sub	112	C=1.000	A=0.000
East Asian	Sub	86	C=1.00	A=0.00
Other Asian	Sub	26	C=1.00	A=0.00
Latin American 1	Sub	146	C=0.726	A=0.274
Latin American 2	Sub	610	C=0.808	A=0.192
South Asian	Sub	98	C=0.77	A=0.23
Other	Sub	692	C=0.754	A=0.246

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	C=0.770354	A=0.229646
gnomAD - Genomes	Global	Study-wide	140030	C=0.751696	A=0.248304
gnomAD - Genomes	European	Sub	75834	C=0.67835	A=0.32165
gnomAD - Genomes	African	Sub	41976	C=0.85651	A=0.14349
gnomAD - Genomes	American	Sub	13632	C=0.79350	A=0.20650
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.6955	A=0.3045
gnomAD - Genomes	East Asian	Sub	3114	C=0.9971	A=0.0029
gnomAD - Genomes	Other	Sub	2154	C=0.7586	A=0.2414
14KJPN	JAPANESE	Study-wide	28258	C=0.99968	A=0.00032
Allele Frequency Aggregator	Total	Global	18890	C=0.73002	A=0.26998
Allele Frequency Aggregator	European	Sub	14286	C=0.69852	A=0.30148
Allele Frequency Aggregator	African	Sub	2946	C=0.8496	A=0.1504
Allele Frequency Aggregator	Other	Sub	692	C=0.754	A=0.246
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.808	A=0.192
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.726	A=0.274
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.77	A=0.23
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99958	A=0.00042
1000Genomes_30x	Global	Study-wide	6404	C=0.8515	A=0.1485
1000Genomes_30x	African	Sub	1786	C=0.8970	A=0.1030
1000Genomes_30x	Europe	Sub	1266	C=0.6801	A=0.3199
1000Genomes_30x	South Asian	Sub	1202	C=0.8519	A=0.1481
1000Genomes_30x	East Asian	Sub	1170	C=0.9983	A=0.0017
1000Genomes_30x	American	Sub	980	C=0.814	A=0.186
1000Genomes	Global	Study-wide	5008	C=0.8514	A=0.1486
1000Genomes	African	Sub	1322	C=0.8949	A=0.1051
1000Genomes	East Asian	Sub	1008	C=0.9980	A=0.0020
1000Genomes	Europe	Sub	1006	C=0.6769	A=0.3231
1000Genomes	South Asian	Sub	978	C=0.844	A=0.156
1000Genomes	American	Sub	694	C=0.820	A=0.180
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7257	A=0.2743
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6614	A=0.3386
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6764	A=0.3236
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9993	A=0.0007
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.677	A=0.323
Northern Sweden	ACPOP	Study-wide	600	C=0.665	A=0.335
Qatari	Global	Study-wide	216	C=0.718	A=0.282
SGDP_PRJ	Global	Study-wide	118	C=0.398	A=0.602
The Danish reference pan genome	Danish	Study-wide	40	C=0.57	A=0.42
Siberian	Global	Study-wide	22	C=0.50	A=0.50

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.49926757C>A
GRCh37.p13 chr 15	NC_000015.9:g.50218954C>A

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.1643-3263G>T	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.1838-326… XM_011522046.3:c.1838-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X3	XM_011522047.3:c.1727-326… XM_011522047.3:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X6	XM_011522048.2:c.1727-326… XM_011522048.2:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X5	XM_011522049.3:c.1727-326… XM_011522049.3:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X7	XM_011522052.4:c.1727-326… XM_011522052.4:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X4	XM_011522053.2:c.1727-326… XM_011522053.2:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X21	XM_011522056.4:c.1727-326… XM_011522056.4:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X24	XM_011522058.4:c.1400-326… XM_011522058.4:c.1400-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X25	XM_011522059.1:c.1382-326… XM_011522059.1:c.1382-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X26	XM_011522060.1:c.1346-326… XM_011522060.1:c.1346-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X27	XM_011522061.1:c.1346-326… XM_011522061.1:c.1346-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X28	XM_011522062.1:c.1346-326… XM_011522062.1:c.1346-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X29	XM_011522063.1:c.1346-326… XM_011522063.1:c.1346-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X38	XM_011522069.2:c.878-3263… XM_011522069.2:c.878-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X41	XM_011522070.2:c.284-3263… XM_011522070.2:c.284-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X13	XM_017022587.3:c.1643-326… XM_017022587.3:c.1643-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X9	XM_017022591.2:c.1727-326… XM_017022591.2:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X23	XM_017022594.1:c.1400-326… XM_017022594.1:c.1400-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X2	XM_024450065.2:c.1754-326… XM_024450065.2:c.1754-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X10	XM_024450066.2:c.1679-326… XM_024450066.2:c.1679-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X11	XM_024450067.2:c.1649-326… XM_024450067.2:c.1649-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X32	XM_024450068.2:c.1838-326… XM_024450068.2:c.1838-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X35	XM_024450069.1:c.1091-326… XM_024450069.1:c.1091-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X42	XM_024450070.2:c.1838-326… XM_024450070.2:c.1838-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X8	XM_047433082.1:c.1727-326… XM_047433082.1:c.1727-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X12	XM_047433083.1:c.1643-326… XM_047433083.1:c.1643-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X14	XM_047433084.1:c.1625-326… XM_047433084.1:c.1625-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X15	XM_047433085.1:c.1595-326… XM_047433085.1:c.1595-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X16	XM_047433086.1:c.1565-326… XM_047433086.1:c.1565-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X17	XM_047433087.1:c.1541-326… XM_047433087.1:c.1541-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X18	XM_047433088.1:c.1514-326… XM_047433088.1:c.1514-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X19	XM_047433089.1:c.1454-326… XM_047433089.1:c.1454-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X20	XM_047433090.1:c.1430-326… XM_047433090.1:c.1430-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X22	XM_047433091.1:c.1406-326… XM_047433091.1:c.1406-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X30	XM_047433092.1:c.1316-326… XM_047433092.1:c.1316-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X31	XM_047433093.1:c.1295-326… XM_047433093.1:c.1295-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X33	XM_047433094.1:c.1241-326… XM_047433094.1:c.1241-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X34	XM_047433096.1:c.1241-326… XM_047433096.1:c.1241-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X36	XM_047433097.1:c.1010-326… XM_047433097.1:c.1010-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X37	XM_047433098.1:c.1010-326… XM_047433098.1:c.1010-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X39	XM_047433099.1:c.1643-326… XM_047433099.1:c.1643-3263G>T	N/A	Intron Variant
ATP8B4 transcript variant X40	XM_047433100.1:c.1838-326… XM_047433100.1:c.1838-3263G>T	N/A	Intron 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=	A
GRCh38.p14 chr 15	NC_000015.10:g.49926757=	NC_000015.10:g.49926757C>A
GRCh37.p13 chr 15	NC_000015.9:g.50218954=	NC_000015.9:g.50218954C>A
ATP8B4 transcript variant 1	NM_024837.3:c.1643-3263=	NM_024837.3:c.1643-3263G>T
ATP8B4 transcript variant 1	NM_024837.4:c.1643-3263=	NM_024837.4:c.1643-3263G>T
ATP8B4 transcript variant X1	XM_011522046.3:c.1838-3263=	XM_011522046.3:c.1838-3263G>T
ATP8B4 transcript variant X3	XM_011522047.3:c.1727-3263=	XM_011522047.3:c.1727-3263G>T
ATP8B4 transcript variant X6	XM_011522048.2:c.1727-3263=	XM_011522048.2:c.1727-3263G>T
ATP8B4 transcript variant X5	XM_011522049.3:c.1727-3263=	XM_011522049.3:c.1727-3263G>T
ATP8B4 transcript variant X7	XM_011522052.4:c.1727-3263=	XM_011522052.4:c.1727-3263G>T
ATP8B4 transcript variant X4	XM_011522053.2:c.1727-3263=	XM_011522053.2:c.1727-3263G>T
ATP8B4 transcript variant X21	XM_011522056.4:c.1727-3263=	XM_011522056.4:c.1727-3263G>T
ATP8B4 transcript variant X24	XM_011522058.4:c.1400-3263=	XM_011522058.4:c.1400-3263G>T
ATP8B4 transcript variant X25	XM_011522059.1:c.1382-3263=	XM_011522059.1:c.1382-3263G>T
ATP8B4 transcript variant X26	XM_011522060.1:c.1346-3263=	XM_011522060.1:c.1346-3263G>T
ATP8B4 transcript variant X27	XM_011522061.1:c.1346-3263=	XM_011522061.1:c.1346-3263G>T
ATP8B4 transcript variant X28	XM_011522062.1:c.1346-3263=	XM_011522062.1:c.1346-3263G>T
ATP8B4 transcript variant X29	XM_011522063.1:c.1346-3263=	XM_011522063.1:c.1346-3263G>T
ATP8B4 transcript variant X38	XM_011522069.2:c.878-3263=	XM_011522069.2:c.878-3263G>T
ATP8B4 transcript variant X41	XM_011522070.2:c.284-3263=	XM_011522070.2:c.284-3263G>T
ATP8B4 transcript variant X13	XM_017022587.3:c.1643-3263=	XM_017022587.3:c.1643-3263G>T
ATP8B4 transcript variant X9	XM_017022591.2:c.1727-3263=	XM_017022591.2:c.1727-3263G>T
ATP8B4 transcript variant X23	XM_017022594.1:c.1400-3263=	XM_017022594.1:c.1400-3263G>T
ATP8B4 transcript variant X2	XM_024450065.2:c.1754-3263=	XM_024450065.2:c.1754-3263G>T
ATP8B4 transcript variant X10	XM_024450066.2:c.1679-3263=	XM_024450066.2:c.1679-3263G>T
ATP8B4 transcript variant X11	XM_024450067.2:c.1649-3263=	XM_024450067.2:c.1649-3263G>T
ATP8B4 transcript variant X32	XM_024450068.2:c.1838-3263=	XM_024450068.2:c.1838-3263G>T
ATP8B4 transcript variant X35	XM_024450069.1:c.1091-3263=	XM_024450069.1:c.1091-3263G>T
ATP8B4 transcript variant X42	XM_024450070.2:c.1838-3263=	XM_024450070.2:c.1838-3263G>T
ATP8B4 transcript variant X8	XM_047433082.1:c.1727-3263=	XM_047433082.1:c.1727-3263G>T
ATP8B4 transcript variant X12	XM_047433083.1:c.1643-3263=	XM_047433083.1:c.1643-3263G>T
ATP8B4 transcript variant X14	XM_047433084.1:c.1625-3263=	XM_047433084.1:c.1625-3263G>T
ATP8B4 transcript variant X15	XM_047433085.1:c.1595-3263=	XM_047433085.1:c.1595-3263G>T
ATP8B4 transcript variant X16	XM_047433086.1:c.1565-3263=	XM_047433086.1:c.1565-3263G>T
ATP8B4 transcript variant X17	XM_047433087.1:c.1541-3263=	XM_047433087.1:c.1541-3263G>T
ATP8B4 transcript variant X18	XM_047433088.1:c.1514-3263=	XM_047433088.1:c.1514-3263G>T
ATP8B4 transcript variant X19	XM_047433089.1:c.1454-3263=	XM_047433089.1:c.1454-3263G>T
ATP8B4 transcript variant X20	XM_047433090.1:c.1430-3263=	XM_047433090.1:c.1430-3263G>T
ATP8B4 transcript variant X22	XM_047433091.1:c.1406-3263=	XM_047433091.1:c.1406-3263G>T
ATP8B4 transcript variant X30	XM_047433092.1:c.1316-3263=	XM_047433092.1:c.1316-3263G>T
ATP8B4 transcript variant X31	XM_047433093.1:c.1295-3263=	XM_047433093.1:c.1295-3263G>T
ATP8B4 transcript variant X33	XM_047433094.1:c.1241-3263=	XM_047433094.1:c.1241-3263G>T
ATP8B4 transcript variant X34	XM_047433096.1:c.1241-3263=	XM_047433096.1:c.1241-3263G>T
ATP8B4 transcript variant X36	XM_047433097.1:c.1010-3263=	XM_047433097.1:c.1010-3263G>T
ATP8B4 transcript variant X37	XM_047433098.1:c.1010-3263=	XM_047433098.1:c.1010-3263G>T
ATP8B4 transcript variant X39	XM_047433099.1:c.1643-3263=	XM_047433099.1:c.1643-3263G>T
ATP8B4 transcript variant X40	XM_047433100.1:c.1838-3263=	XM_047433100.1:c.1838-3263G>T

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#.

58 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss6287451	Feb 20, 2003 (111)
2	SC_SNP	ss15749199	Feb 27, 2004 (120)
3	ABI	ss43716106	Mar 14, 2006 (126)
4	BCMHGSC_JDW	ss90149867	Mar 24, 2008 (129)
5	HUMANGENOME_JCVI	ss96810034	Feb 04, 2009 (130)
6	1000GENOMES	ss108800452	Jan 23, 2009 (130)
7	1000GENOMES	ss114150685	Jan 25, 2009 (130)
8	ENSEMBL	ss134279741	Dec 01, 2009 (131)
9	BCM-HGSC-SUB	ss207382429	Jul 04, 2010 (132)
10	1000GENOMES	ss226884557	Jul 14, 2010 (132)
11	1000GENOMES	ss236772174	Jul 15, 2010 (132)
12	PJP	ss291717039	May 09, 2011 (134)
13	TISHKOFF	ss564472047	Apr 25, 2013 (138)
14	SSMP	ss660193281	Apr 25, 2013 (138)
15	EVA-GONL	ss991770681	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1080112866	Aug 21, 2014 (142)
17	1000GENOMES	ss1353404508	Aug 21, 2014 (142)
18	DDI	ss1427620647	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1577604832	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1632965040	Apr 01, 2015 (144)
21	EVA_UK10K_TWINSUK	ss1675959073	Apr 01, 2015 (144)
22	EVA_DECODE	ss1695787512	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1808196832	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1935173935	Feb 12, 2016 (147)
25	JJLAB	ss2028366348	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2156767606	Dec 20, 2016 (150)
27	HUMAN_LONGEVITY	ss2206652920	Dec 20, 2016 (150)
28	GNOMAD	ss2934736653	Nov 08, 2017 (151)
29	SWEGEN	ss3013257747	Nov 08, 2017 (151)
30	BIOINF_KMB_FNS_UNIBA	ss3028006162	Nov 08, 2017 (151)
31	CSHL	ss3351107878	Nov 08, 2017 (151)
32	URBANLAB	ss3650349709	Oct 12, 2018 (152)
33	EGCUT_WGS	ss3680399262	Jul 13, 2019 (153)
34	EVA_DECODE	ss3697862263	Jul 13, 2019 (153)
35	ACPOP	ss3740909852	Jul 13, 2019 (153)
36	EVA	ss3753065762	Jul 13, 2019 (153)
37	PACBIO	ss3787841326	Jul 13, 2019 (153)
38	PACBIO	ss3792853806	Jul 13, 2019 (153)
39	PACBIO	ss3797738286	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3818383774	Jul 13, 2019 (153)
41	EVA	ss3834226345	Apr 27, 2020 (154)
42	EVA	ss3840711577	Apr 27, 2020 (154)
43	EVA	ss3846200112	Apr 27, 2020 (154)
44	SGDP_PRJ	ss3882885781	Apr 27, 2020 (154)
45	KRGDB	ss3932046991	Apr 27, 2020 (154)
46	TOPMED	ss4990873093	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5216124931	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5298389330	Oct 17, 2022 (156)
49	EVA	ss5419143257	Oct 17, 2022 (156)
50	HUGCELL_USP	ss5492123492	Oct 17, 2022 (156)
51	EVA	ss5511424138	Oct 17, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5599768981	Oct 17, 2022 (156)
53	SANFORD_IMAGENETICS	ss5657480038	Oct 17, 2022 (156)
54	TOMMO_GENOMICS	ss5769911051	Oct 17, 2022 (156)
55	YY_MCH	ss5815319498	Oct 17, 2022 (156)
56	EVA	ss5828181328	Oct 17, 2022 (156)
57	EVA	ss5875816732	Oct 17, 2022 (156)
58	EVA	ss5948879502	Oct 17, 2022 (156)
59	1000Genomes	NC_000015.9 - 50218954	Oct 12, 2018 (152)
60	1000Genomes_30x	NC_000015.10 - 49926757	Oct 17, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 50218954	Oct 12, 2018 (152)
62	Genetic variation in the Estonian population	NC_000015.9 - 50218954	Oct 12, 2018 (152)
63	The Danish reference pan genome	NC_000015.9 - 50218954	Apr 27, 2020 (154)
64	gnomAD - Genomes	NC_000015.10 - 49926757	Apr 26, 2021 (155)
65	Genome of the Netherlands Release 5	NC_000015.9 - 50218954	Apr 27, 2020 (154)
66	KOREAN population from KRGDB	NC_000015.9 - 50218954	Apr 27, 2020 (154)
67	Northern Sweden	NC_000015.9 - 50218954	Jul 13, 2019 (153)
68	Qatari	NC_000015.9 - 50218954	Apr 27, 2020 (154)
69	SGDP_PRJ	NC_000015.9 - 50218954	Apr 27, 2020 (154)
70	Siberian	NC_000015.9 - 50218954	Apr 27, 2020 (154)
71	8.3KJPN	NC_000015.9 - 50218954	Apr 26, 2021 (155)
72	14KJPN	NC_000015.10 - 49926757	Oct 17, 2022 (156)
73	TopMed	NC_000015.10 - 49926757	Apr 26, 2021 (155)
74	UK 10K study - Twins	NC_000015.9 - 50218954	Oct 12, 2018 (152)
75	ALFA	NC_000015.10 - 49926757	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss90149867, ss108800452, ss114150685, ss207382429, ss291717039, ss1695787512	NC_000015.8:48006245:C:A	NC_000015.10:49926756:C:A	(self)
66474308, 36900330, 26137510, 3849611, 16479553, 39224385, 14194717, 17215865, 34902761, 9283960, 74094238, 36900330, ss226884557, ss236772174, ss564472047, ss660193281, ss991770681, ss1080112866, ss1353404508, ss1427620647, ss1577604832, ss1632965040, ss1675959073, ss1808196832, ss1935173935, ss2028366348, ss2156767606, ss2934736653, ss3013257747, ss3351107878, ss3680399262, ss3740909852, ss3753065762, ss3787841326, ss3792853806, ss3797738286, ss3834226345, ss3840711577, ss3882885781, ss3932046991, ss5216124931, ss5419143257, ss5511424138, ss5657480038, ss5828181328, ss5948879502	NC_000015.9:50218953:C:A	NC_000015.10:49926756:C:A	(self)
87294916, 468640272, 103748155, 206418753, 6136466058, ss2206652920, ss3028006162, ss3650349709, ss3697862263, ss3818383774, ss3846200112, ss4990873093, ss5298389330, ss5492123492, ss5599768981, ss5769911051, ss5815319498, ss5875816732	NC_000015.10:49926756:C:A	NC_000015.10:49926756:C:A	(self)
ss15749199	NT_010194.16:21009510:C:A	NC_000015.10:49926756:C:A	(self)
ss6287451, ss43716106, ss96810034, ss134279741	NT_010194.17:21009510:C:A	NC_000015.10:49926756:C:A	(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 rs4632079

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

rs4632079