Name: rs28439037
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.

rs28439037

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:79117915 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.239340 (63351/264690, TOPMED)
G=0.241588 (33830/140032, GnomAD)
G=0.45835 (12952/28258, 14KJPN) (+ 16 more)
G=0.24457 (4620/18890, ALFA)
G=0.45871 (7688/16760, 8.3KJPN)
G=0.3090 (1979/6404, 1000G_30x)
G=0.3147 (1576/5008, 1000G)
G=0.2623 (1175/4480, Estonian)
G=0.2379 (917/3854, ALSPAC)
G=0.2416 (896/3708, TWINSUK)
A=0.4795 (1405/2930, KOREAN)
A=0.4793 (878/1832, Korea1K)
G=0.232 (232/998, GoNL)
G=0.167 (100/600, NorthernSweden)
A=0.372 (110/296, SGDP_PRJ)
G=0.292 (63/216, Qatari)
G=0.476 (101/212, Vietnamese)
G=0.20 (8/40, GENOME_DK)
A=0.36 (8/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ATP9B : 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	A=0.75543	G=0.24457
European	Sub	14286	A=0.75157	G=0.24843
African	Sub	2946	A=0.7875	G=0.2125
African Others	Sub	114	A=0.851	G=0.149
African American	Sub	2832	A=0.7850	G=0.2150
Asian	Sub	112	A=0.491	G=0.509
East Asian	Sub	86	A=0.47	G=0.53
Other Asian	Sub	26	A=0.58	G=0.42
Latin American 1	Sub	146	A=0.767	G=0.233
Latin American 2	Sub	610	A=0.739	G=0.261
South Asian	Sub	98	A=0.67	G=0.33
Other	Sub	692	A=0.764	G=0.236

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	A=0.760660	G=0.239340
gnomAD - Genomes	Global	Study-wide	140032	A=0.758412	G=0.241588
gnomAD - Genomes	European	Sub	75816	A=0.75273	G=0.24727
gnomAD - Genomes	African	Sub	41972	A=0.78907	G=0.21093
gnomAD - Genomes	American	Sub	13650	A=0.77194	G=0.22806
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.7089	G=0.2911
gnomAD - Genomes	East Asian	Sub	3120	A=0.4843	G=0.5157
gnomAD - Genomes	Other	Sub	2152	A=0.7486	G=0.2514
14KJPN	JAPANESE	Study-wide	28258	A=0.54165	G=0.45835
Allele Frequency Aggregator	Total	Global	18890	A=0.75543	G=0.24457
Allele Frequency Aggregator	European	Sub	14286	A=0.75157	G=0.24843
Allele Frequency Aggregator	African	Sub	2946	A=0.7875	G=0.2125
Allele Frequency Aggregator	Other	Sub	692	A=0.764	G=0.236
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.739	G=0.261
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.767	G=0.233
Allele Frequency Aggregator	Asian	Sub	112	A=0.491	G=0.509
Allele Frequency Aggregator	South Asian	Sub	98	A=0.67	G=0.33
8.3KJPN	JAPANESE	Study-wide	16760	A=0.54129	G=0.45871
1000Genomes_30x	Global	Study-wide	6404	A=0.6910	G=0.3090
1000Genomes_30x	African	Sub	1786	A=0.7704	G=0.2296
1000Genomes_30x	Europe	Sub	1266	A=0.7480	G=0.2520
1000Genomes_30x	South Asian	Sub	1202	A=0.5566	G=0.4434
1000Genomes_30x	East Asian	Sub	1170	A=0.5547	G=0.4453
1000Genomes_30x	American	Sub	980	A=0.800	G=0.200
1000Genomes	Global	Study-wide	5008	A=0.6853	G=0.3147
1000Genomes	African	Sub	1322	A=0.7716	G=0.2284
1000Genomes	East Asian	Sub	1008	A=0.5516	G=0.4484
1000Genomes	Europe	Sub	1006	A=0.7435	G=0.2565
1000Genomes	South Asian	Sub	978	A=0.569	G=0.431
1000Genomes	American	Sub	694	A=0.795	G=0.205
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7377	G=0.2623
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7621	G=0.2379
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7584	G=0.2416
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4795	G=0.5205, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4793	G=0.5207
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.768	G=0.232
Northern Sweden	ACPOP	Study-wide	600	A=0.833	G=0.167
SGDP_PRJ	Global	Study-wide	296	A=0.372	G=0.628
Qatari	Global	Study-wide	216	A=0.708	G=0.292
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.524	G=0.476
The Danish reference pan genome	Danish	Study-wide	40	A=0.80	G=0.20
Siberian	Global	Study-wide	22	A=0.36	G=0.64

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 18	NC_000018.10:g.79117915A>G
GRCh38.p14 chr 18	NC_000018.10:g.79117915A>T
GRCh37.p13 chr 18	NC_000018.9:g.76877915A>G
GRCh37.p13 chr 18	NC_000018.9:g.76877915A>T

Gene: ATP9B, ATPase phospholipid transporting 9B (putative) (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ATP9B transcript variant 2	NM_001306085.2:c.558+4561… NM_001306085.2:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant 1	NM_198531.5:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant 3	NR_148360.2:n.	N/A	Intron Variant
ATP9B transcript variant X1	XM_011525963.3:c.561+4561… XM_011525963.3:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X2	XM_011525964.3:c.558+4561… XM_011525964.3:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X10	XM_011525966.3:c.441+4561… XM_011525966.3:c.441+4561A>G	N/A	Intron Variant
ATP9B transcript variant X3	XM_017025726.2:c.561+4561… XM_017025726.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X4	XM_017025727.2:c.561+4561… XM_017025727.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X6	XM_017025728.3:c.561+4561… XM_017025728.3:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X7	XM_017025729.2:c.561+4561… XM_017025729.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X8	XM_017025730.2:c.561+4561… XM_017025730.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X11	XM_017025731.2:c.561+4561… XM_017025731.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X13	XM_017025732.2:c.561+4561… XM_017025732.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X16	XM_017025733.2:c.561+4561… XM_017025733.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X18	XM_017025734.2:c.561+4561… XM_017025734.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X19	XM_017025735.3:c.561+4561… XM_017025735.3:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X21	XM_017025736.3:c.561+4561… XM_017025736.3:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X24	XM_017025737.2:c.561+4561… XM_017025737.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X34	XM_017025742.2:c.561+4561… XM_017025742.2:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X5	XM_047437489.1:c.558+4561… XM_047437489.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X9	XM_047437490.1:c.441+4561… XM_047437490.1:c.441+4561A>G	N/A	Intron Variant
ATP9B transcript variant X12	XM_047437491.1:c.441+4561… XM_047437491.1:c.441+4561A>G	N/A	Intron Variant
ATP9B transcript variant X14	XM_047437492.1:c.558+4561… XM_047437492.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X15	XM_047437493.1:c.441+4561… XM_047437493.1:c.441+4561A>G	N/A	Intron Variant
ATP9B transcript variant X17	XM_047437494.1:c.558+4561… XM_047437494.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X20	XM_047437495.1:c.561+4561… XM_047437495.1:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X22	XM_047437496.1:c.561+4561… XM_047437496.1:c.561+4561A>G	N/A	Intron Variant
ATP9B transcript variant X23	XM_047437497.1:c.558+4561… XM_047437497.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X25	XM_047437498.1:c.558+4561… XM_047437498.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X26	XM_047437499.1:c.558+4561… XM_047437499.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X27	XM_047437500.1:c.558+4561… XM_047437500.1:c.558+4561A>G	N/A	Intron Variant
ATP9B transcript variant X28	XM_011525971.3:c.	N/A	Genic Upstream Transcript Variant
ATP9B transcript variant X29	XM_011525972.3:c.	N/A	Genic Upstream Transcript Variant
ATP9B transcript variant X30	XM_011525973.3:c.	N/A	Genic Upstream Transcript Variant
ATP9B transcript variant X31	XM_011525974.3:c.	N/A	Genic Upstream Transcript Variant
ATP9B transcript variant X32	XM_047437501.1:c.	N/A	Genic Upstream Transcript Variant
ATP9B transcript variant X33	XM_047437502.1:c.	N/A	Genic Upstream Transcript 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	A=	G	T
GRCh38.p14 chr 18	NC_000018.10:g.79117915=	NC_000018.10:g.79117915A>G	NC_000018.10:g.79117915A>T
GRCh37.p13 chr 18	NC_000018.9:g.76877915=	NC_000018.9:g.76877915A>G	NC_000018.9:g.76877915A>T
ATP9B transcript variant 2	NM_001306085.2:c.558+4561=	NM_001306085.2:c.558+4561A>G	NM_001306085.2:c.558+4561A>T
ATP9B transcript	NM_198531.3:c.558+4561=	NM_198531.3:c.558+4561A>G	NM_198531.3:c.558+4561A>T
ATP9B transcript variant 1	NM_198531.5:c.558+4561=	NM_198531.5:c.558+4561A>G	NM_198531.5:c.558+4561A>T
ATP9B transcript variant X1	XM_005266690.1:c.558+4561=	XM_005266690.1:c.558+4561A>G	XM_005266690.1:c.558+4561A>T
ATP9B transcript variant X10	XM_005266691.1:c.558+4561=	XM_005266691.1:c.558+4561A>G	XM_005266691.1:c.558+4561A>T
ATP9B transcript variant X3	XM_005266692.1:c.558+4561=	XM_005266692.1:c.558+4561A>G	XM_005266692.1:c.558+4561A>T
ATP9B transcript variant X4	XM_005266693.1:c.558+4561=	XM_005266693.1:c.558+4561A>G	XM_005266693.1:c.558+4561A>T
ATP9B transcript variant X5	XM_005266694.1:c.558+4561=	XM_005266694.1:c.558+4561A>G	XM_005266694.1:c.558+4561A>T
ATP9B transcript variant X6	XM_005266695.1:c.558+4561=	XM_005266695.1:c.558+4561A>G	XM_005266695.1:c.558+4561A>T
ATP9B transcript variant X1	XM_011525963.3:c.561+4561=	XM_011525963.3:c.561+4561A>G	XM_011525963.3:c.561+4561A>T
ATP9B transcript variant X2	XM_011525964.3:c.558+4561=	XM_011525964.3:c.558+4561A>G	XM_011525964.3:c.558+4561A>T
ATP9B transcript variant X10	XM_011525966.3:c.441+4561=	XM_011525966.3:c.441+4561A>G	XM_011525966.3:c.441+4561A>T
ATP9B transcript variant X3	XM_017025726.2:c.561+4561=	XM_017025726.2:c.561+4561A>G	XM_017025726.2:c.561+4561A>T
ATP9B transcript variant X4	XM_017025727.2:c.561+4561=	XM_017025727.2:c.561+4561A>G	XM_017025727.2:c.561+4561A>T
ATP9B transcript variant X6	XM_017025728.3:c.561+4561=	XM_017025728.3:c.561+4561A>G	XM_017025728.3:c.561+4561A>T
ATP9B transcript variant X7	XM_017025729.2:c.561+4561=	XM_017025729.2:c.561+4561A>G	XM_017025729.2:c.561+4561A>T
ATP9B transcript variant X8	XM_017025730.2:c.561+4561=	XM_017025730.2:c.561+4561A>G	XM_017025730.2:c.561+4561A>T
ATP9B transcript variant X11	XM_017025731.2:c.561+4561=	XM_017025731.2:c.561+4561A>G	XM_017025731.2:c.561+4561A>T
ATP9B transcript variant X13	XM_017025732.2:c.561+4561=	XM_017025732.2:c.561+4561A>G	XM_017025732.2:c.561+4561A>T
ATP9B transcript variant X16	XM_017025733.2:c.561+4561=	XM_017025733.2:c.561+4561A>G	XM_017025733.2:c.561+4561A>T
ATP9B transcript variant X18	XM_017025734.2:c.561+4561=	XM_017025734.2:c.561+4561A>G	XM_017025734.2:c.561+4561A>T
ATP9B transcript variant X19	XM_017025735.3:c.561+4561=	XM_017025735.3:c.561+4561A>G	XM_017025735.3:c.561+4561A>T
ATP9B transcript variant X21	XM_017025736.3:c.561+4561=	XM_017025736.3:c.561+4561A>G	XM_017025736.3:c.561+4561A>T
ATP9B transcript variant X24	XM_017025737.2:c.561+4561=	XM_017025737.2:c.561+4561A>G	XM_017025737.2:c.561+4561A>T
ATP9B transcript variant X34	XM_017025742.2:c.561+4561=	XM_017025742.2:c.561+4561A>G	XM_017025742.2:c.561+4561A>T
ATP9B transcript variant X5	XM_047437489.1:c.558+4561=	XM_047437489.1:c.558+4561A>G	XM_047437489.1:c.558+4561A>T
ATP9B transcript variant X9	XM_047437490.1:c.441+4561=	XM_047437490.1:c.441+4561A>G	XM_047437490.1:c.441+4561A>T
ATP9B transcript variant X12	XM_047437491.1:c.441+4561=	XM_047437491.1:c.441+4561A>G	XM_047437491.1:c.441+4561A>T
ATP9B transcript variant X14	XM_047437492.1:c.558+4561=	XM_047437492.1:c.558+4561A>G	XM_047437492.1:c.558+4561A>T
ATP9B transcript variant X15	XM_047437493.1:c.441+4561=	XM_047437493.1:c.441+4561A>G	XM_047437493.1:c.441+4561A>T
ATP9B transcript variant X17	XM_047437494.1:c.558+4561=	XM_047437494.1:c.558+4561A>G	XM_047437494.1:c.558+4561A>T
ATP9B transcript variant X20	XM_047437495.1:c.561+4561=	XM_047437495.1:c.561+4561A>G	XM_047437495.1:c.561+4561A>T
ATP9B transcript variant X22	XM_047437496.1:c.561+4561=	XM_047437496.1:c.561+4561A>G	XM_047437496.1:c.561+4561A>T
ATP9B transcript variant X23	XM_047437497.1:c.558+4561=	XM_047437497.1:c.558+4561A>G	XM_047437497.1:c.558+4561A>T
ATP9B transcript variant X25	XM_047437498.1:c.558+4561=	XM_047437498.1:c.558+4561A>G	XM_047437498.1:c.558+4561A>T
ATP9B transcript variant X26	XM_047437499.1:c.558+4561=	XM_047437499.1:c.558+4561A>G	XM_047437499.1:c.558+4561A>T
ATP9B transcript variant X27	XM_047437500.1:c.558+4561=	XM_047437500.1:c.558+4561A>G	XM_047437500.1:c.558+4561A>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#.

55 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss35150913	May 24, 2005 (125)
2	HGSV	ss82424713	Dec 14, 2007 (130)
3	BGI	ss106040496	Feb 03, 2009 (130)
4	1000GENOMES	ss110945915	Jan 25, 2009 (130)
5	1000GENOMES	ss114711443	Jan 25, 2009 (130)
6	COMPLETE_GENOMICS	ss170454774	Jul 04, 2010 (132)
7	BUSHMAN	ss203554846	Jul 04, 2010 (132)
8	1000GENOMES	ss227996280	Jul 14, 2010 (132)
9	1000GENOMES	ss237568649	Jul 15, 2010 (132)
10	1000GENOMES	ss243797755	Jul 15, 2010 (132)
11	GMI	ss283088337	May 04, 2012 (137)
12	GMI	ss287330057	Apr 25, 2013 (138)
13	TISHKOFF	ss565793349	Apr 25, 2013 (138)
14	SSMP	ss661640614	Apr 25, 2013 (138)
15	EVA-GONL	ss993985319	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1081695930	Aug 21, 2014 (142)
17	1000GENOMES	ss1361960669	Aug 21, 2014 (142)
18	DDI	ss1428302516	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1578514937	Apr 01, 2015 (144)
20	EVA_UK10K_ALSPAC	ss1637385162	Apr 01, 2015 (144)
21	EVA_UK10K_TWINSUK	ss1680379195	Apr 01, 2015 (144)
22	EVA_DECODE	ss1698049482	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1809162504	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1937456991	Feb 12, 2016 (147)
25	JJLAB	ss2029505260	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2158013604	Dec 20, 2016 (150)
27	HUMAN_LONGEVITY	ss2223499205	Dec 20, 2016 (150)
28	SYSTEMSBIOZJU	ss2629251646	Nov 08, 2017 (151)
29	GRF	ss2702616000	Nov 08, 2017 (151)
30	GNOMAD	ss2959287780	Nov 08, 2017 (151)
31	SWEGEN	ss3016912995	Nov 08, 2017 (151)
32	BIOINF_KMB_FNS_UNIBA	ss3028585301	Nov 08, 2017 (151)
33	CSHL	ss3352144915	Nov 08, 2017 (151)
34	EGCUT_WGS	ss3683768159	Jul 13, 2019 (153)
35	EVA_DECODE	ss3702129700	Jul 13, 2019 (153)
36	ACPOP	ss3742762995	Jul 13, 2019 (153)
37	EVA	ss3755690412	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3820945692	Jul 13, 2019 (153)
39	EVA	ss3835297454	Apr 27, 2020 (154)
40	SGDP_PRJ	ss3887521986	Apr 27, 2020 (154)
41	KRGDB	ss3937433091	Apr 27, 2020 (154)
42	KOGIC	ss3980591022	Apr 27, 2020 (154)
43	TOPMED	ss5064767903	Apr 27, 2021 (155)
44	TOMMO_GENOMICS	ss5226217755	Apr 27, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5306113714	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5498805600	Oct 16, 2022 (156)
47	EVA	ss5512023526	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5611370230	Oct 16, 2022 (156)
49	SANFORD_IMAGENETICS	ss5661772701	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5784307091	Oct 16, 2022 (156)
51	YY_MCH	ss5817312395	Oct 16, 2022 (156)
52	EVA	ss5827878777	Oct 16, 2022 (156)
53	EVA	ss5852164624	Oct 16, 2022 (156)
54	EVA	ss5875030467	Oct 16, 2022 (156)
55	EVA	ss5953208726	Oct 16, 2022 (156)
56	1000Genomes	NC_000018.9 - 76877915	Oct 12, 2018 (152)
57	1000Genomes_30x	NC_000018.10 - 79117915	Oct 16, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 76877915	Oct 12, 2018 (152)
59	Genetic variation in the Estonian population	NC_000018.9 - 76877915	Oct 12, 2018 (152)
60	The Danish reference pan genome	NC_000018.9 - 76877915	Apr 27, 2020 (154)
61	gnomAD - Genomes	NC_000018.10 - 79117915	Apr 27, 2021 (155)
62	Genome of the Netherlands Release 5	NC_000018.9 - 76877915	Apr 27, 2020 (154)
63	KOREAN population from KRGDB	NC_000018.9 - 76877915	Apr 27, 2020 (154)
64	Korean Genome Project	NC_000018.10 - 79117915	Apr 27, 2020 (154)
65	Northern Sweden	NC_000018.9 - 76877915	Jul 13, 2019 (153)
66	Qatari	NC_000018.9 - 76877915	Apr 27, 2020 (154)
67	SGDP_PRJ	NC_000018.9 - 76877915	Apr 27, 2020 (154)
68	Siberian	NC_000018.9 - 76877915	Apr 27, 2020 (154)
69	8.3KJPN	NC_000018.9 - 76877915	Apr 27, 2021 (155)
70	14KJPN	NC_000018.10 - 79117915	Oct 16, 2022 (156)
71	TopMed	NC_000018.10 - 79117915	Apr 27, 2021 (155)
72	UK 10K study - Twins	NC_000018.9 - 76877915	Oct 12, 2018 (152)
73	A Vietnamese Genetic Variation Database	NC_000018.9 - 76877915	Jul 13, 2019 (153)
74	ALFA	NC_000018.10 - 79117915	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)
rs56950039	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss35150913, ss82424713, ss110945915, ss114711443, ss170454774, ss203554846, ss283088337, ss287330057, ss1698049482	NC_000018.8:74978902:A:G	NC_000018.10:79117914:A:G	(self)
75323536, 41759312, 29506407, 4702519, 18606678, 44610485, 16047860, 19498913, 39538966, 10529958, 84187062, 41759312, 9235698, ss227996280, ss237568649, ss243797755, ss565793349, ss661640614, ss993985319, ss1081695930, ss1361960669, ss1428302516, ss1578514937, ss1637385162, ss1680379195, ss1809162504, ss1937456991, ss2029505260, ss2158013604, ss2629251646, ss2702616000, ss2959287780, ss3016912995, ss3352144915, ss3683768159, ss3742762995, ss3755690412, ss3835297454, ss3887521986, ss3937433091, ss5226217755, ss5512023526, ss5661772701, ss5827878777, ss5953208726	NC_000018.9:76877914:A:G	NC_000018.10:79117914:A:G	(self)
98896165, 531174444, 36969023, 118144195, 280313566, 13583025087, ss2223499205, ss3028585301, ss3702129700, ss3820945692, ss3980591022, ss5064767903, ss5306113714, ss5498805600, ss5611370230, ss5784307091, ss5817312395, ss5852164624, ss5875030467	NC_000018.10:79117914:A:G	NC_000018.10:79117914:A:G	(self)
ss106040496	NT_025028.14:24668778:A:G	NC_000018.10:79117914:A:G	(self)
44610485, ss3937433091	NC_000018.9:76877914:A:T	NC_000018.10:79117914:A: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 rs28439037

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

rs28439037