Name: rs1053593
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.

rs1053593

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:35264882 (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>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.369484 (132322/358126, ALFA)
T=0.481752 (127515/264690, TOPMED)
T=0.488564 (68355/139910, GnomAD) (+ 25 more)
T=0.39553 (31122/78684, PAGE_STUDY)
G=0.47300 (13366/28258, 14KJPN)
G=0.47500 (7961/16760, 8.3KJPN)
T=0.48939 (6365/13006, GO-ESP)
T=0.4427 (2835/6404, 1000G_30x)
T=0.4525 (2266/5008, 1000G)
G=0.3638 (1630/4480, Estonian)
G=0.3454 (1331/3854, ALSPAC)
G=0.3460 (1283/3708, TWINSUK)
G=0.4526 (1326/2930, KOREAN)
T=0.4952 (1032/2084, HGDP_Stanford)
T=0.3970 (748/1884, HapMap)
G=0.4623 (847/1832, Korea1K)
G=0.3877 (435/1122, Daghestan)
G=0.356 (355/998, GoNL)
G=0.408 (290/710, PRJEB37584)
G=0.448 (274/612, Vietnamese)
G=0.428 (257/600, NorthernSweden)
G=0.371 (198/534, MGP)
G=0.290 (112/386, SGDP_PRJ)
G=0.388 (118/304, FINRISK)
T=0.481 (104/216, Qatari)
G=0.28 (14/50, Siberian)
G=0.42 (17/40, GENOME_DK)
G=0.11 (4/38, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: HMGXB4 : Missense 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	374242	G=0.375324	T=0.624676
European	Sub	313426	G=0.346583	T=0.653417
African	Sub	16354	G=0.83123	T=0.16877
African Others	Sub	594	G=0.938	T=0.062
African American	Sub	15760	G=0.82722	T=0.17278
Asian	Sub	6920	G=0.4406	T=0.5594
East Asian	Sub	4952	G=0.4384	T=0.5616
Other Asian	Sub	1968	G=0.4461	T=0.5539
Latin American 1	Sub	1486	G=0.5047	T=0.4953
Latin American 2	Sub	7134	G=0.4019	T=0.5981
South Asian	Sub	5226	G=0.4284	T=0.5716
Other	Sub	23696	G=0.39395	T=0.60605

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
Allele Frequency Aggregator	Total	Global	358126	G=0.369484	T=0.630516
Allele Frequency Aggregator	European	Sub	303564	G=0.346576	T=0.653424
Allele Frequency Aggregator	Other	Sub	22262	G=0.39174	T=0.60826
Allele Frequency Aggregator	African	Sub	11534	G=0.82261	T=0.17739
Allele Frequency Aggregator	Latin American 2	Sub	7134	G=0.4019	T=0.5981
Allele Frequency Aggregator	Asian	Sub	6920	G=0.4406	T=0.5594
Allele Frequency Aggregator	South Asian	Sub	5226	G=0.4284	T=0.5716
Allele Frequency Aggregator	Latin American 1	Sub	1486	G=0.5047	T=0.4953
TopMed	Global	Study-wide	264690	G=0.518248	T=0.481752
gnomAD - Genomes	Global	Study-wide	139910	G=0.511436	T=0.488564
gnomAD - Genomes	European	Sub	75776	G=0.35519	T=0.64481
gnomAD - Genomes	African	Sub	41910	G=0.83868	T=0.16132
gnomAD - Genomes	American	Sub	13636	G=0.44441	T=0.55559
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.3110	T=0.6890
gnomAD - Genomes	East Asian	Sub	3124	G=0.4507	T=0.5493
gnomAD - Genomes	Other	Sub	2146	G=0.4618	T=0.5382
The PAGE Study	Global	Study-wide	78684	G=0.60447	T=0.39553
The PAGE Study	AfricanAmerican	Sub	32502	G=0.82681	T=0.17319
The PAGE Study	Mexican	Sub	10810	G=0.43765	T=0.56235
The PAGE Study	Asian	Sub	8316	G=0.4735	T=0.5265
The PAGE Study	PuertoRican	Sub	7916	G=0.4515	T=0.5485
The PAGE Study	NativeHawaiian	Sub	4534	G=0.3379	T=0.6621
The PAGE Study	Cuban	Sub	4230	G=0.4002	T=0.5998
The PAGE Study	Dominican	Sub	3828	G=0.5713	T=0.4287
The PAGE Study	CentralAmerican	Sub	2450	G=0.5127	T=0.4873
The PAGE Study	SouthAmerican	Sub	1982	G=0.4203	T=0.5797
The PAGE Study	NativeAmerican	Sub	1260	G=0.4500	T=0.5500
The PAGE Study	SouthAsian	Sub	856	G=0.442	T=0.558
14KJPN	JAPANESE	Study-wide	28258	G=0.47300	T=0.52700
8.3KJPN	JAPANESE	Study-wide	16760	G=0.47500	T=0.52500
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.51061	T=0.48939
GO Exome Sequencing Project	European American	Sub	8600	G=0.3445	T=0.6555
GO Exome Sequencing Project	African American	Sub	4406	G=0.8348	T=0.1652
1000Genomes_30x	Global	Study-wide	6404	G=0.5573	T=0.4427
1000Genomes_30x	African	Sub	1786	G=0.9334	T=0.0666
1000Genomes_30x	Europe	Sub	1266	G=0.3507	T=0.6493
1000Genomes_30x	South Asian	Sub	1202	G=0.4151	T=0.5849
1000Genomes_30x	East Asian	Sub	1170	G=0.4769	T=0.5231
1000Genomes_30x	American	Sub	980	G=0.409	T=0.591
1000Genomes	Global	Study-wide	5008	G=0.5475	T=0.4525
1000Genomes	African	Sub	1322	G=0.9304	T=0.0696
1000Genomes	East Asian	Sub	1008	G=0.4752	T=0.5248
1000Genomes	Europe	Sub	1006	G=0.3429	T=0.6571
1000Genomes	South Asian	Sub	978	G=0.416	T=0.584
1000Genomes	American	Sub	694	G=0.405	T=0.595
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3638	T=0.6362
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3454	T=0.6546
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3460	T=0.6540
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4526	A=0.0000, T=0.5474
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.5048	T=0.4952
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.417	T=0.583
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.531	T=0.469
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.369	T=0.631
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.366	T=0.634
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.946	T=0.054
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.560	T=0.440
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.56	T=0.44
HapMap	Global	Study-wide	1884	G=0.6030	T=0.3970
HapMap	American	Sub	768	G=0.418	T=0.582
HapMap	African	Sub	686	G=0.924	T=0.076
HapMap	Asian	Sub	254	G=0.476	T=0.524
HapMap	Europe	Sub	176	G=0.341	T=0.659
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4623	T=0.5377
Genome-wide autozygosity in Daghestan	Global	Study-wide	1122	G=0.3877	T=0.6123
Genome-wide autozygosity in Daghestan	Daghestan	Sub	616	G=0.364	T=0.636
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.479	T=0.521
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.393	T=0.607
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.333	T=0.667
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.46	T=0.54
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.39	T=0.61
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.356	T=0.644
CNV burdens in cranial meningiomas	Global	Study-wide	710	G=0.408	T=0.592
CNV burdens in cranial meningiomas	CRM	Sub	710	G=0.408	T=0.592
A Vietnamese Genetic Variation Database	Global	Study-wide	612	G=0.448	T=0.552
Northern Sweden	ACPOP	Study-wide	600	G=0.428	T=0.572
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.371	T=0.629
SGDP_PRJ	Global	Study-wide	386	G=0.290	T=0.710
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.388	T=0.612
Qatari	Global	Study-wide	216	G=0.519	T=0.481
Siberian	Global	Study-wide	50	G=0.28	T=0.72
The Danish reference pan genome	Danish	Study-wide	40	G=0.42	T=0.57
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	38	G=0.11	T=0.89

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 22	NC_000022.11:g.35264882G>A
GRCh38.p14 chr 22	NC_000022.11:g.35264882G>C
GRCh38.p14 chr 22	NC_000022.11:g.35264882G>T
GRCh37.p13 chr 22	NC_000022.10:g.35660875G>A
GRCh37.p13 chr 22	NC_000022.10:g.35660875G>C
GRCh37.p13 chr 22	NC_000022.10:g.35660875G>T

Gene: HMGXB4, HMG-box containing 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HMGXB4 transcript variant 1	NM_001003681.3:c.494G>A	G [GGC] > D [GAC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform 1	NP_001003681.1:p.Gly165Asp	G (Gly) > D (Asp)	Missense Variant
HMGXB4 transcript variant 1	NM_001003681.3:c.494G>C	G [GGC] > A [GCC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform 1	NP_001003681.1:p.Gly165Ala	G (Gly) > A (Ala)	Missense Variant
HMGXB4 transcript variant 1	NM_001003681.3:c.494G>T	G [GGC] > V [GTC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform 1	NP_001003681.1:p.Gly165Val	G (Gly) > V (Val)	Missense Variant
HMGXB4 transcript variant 3	NM_001362972.2:c.167G>A	G [GGC] > D [GAC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform 2	NP_001349901.1:p.Gly56Asp	G (Gly) > D (Asp)	Missense Variant
HMGXB4 transcript variant 3	NM_001362972.2:c.167G>C	G [GGC] > A [GCC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform 2	NP_001349901.1:p.Gly56Ala	G (Gly) > A (Ala)	Missense Variant
HMGXB4 transcript variant 3	NM_001362972.2:c.167G>T	G [GGC] > V [GTC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform 2	NP_001349901.1:p.Gly56Val	G (Gly) > V (Val)	Missense Variant
HMGXB4 transcript variant 2	NR_027780.2:n.742G>A	N/A	Non Coding Transcript Variant
HMGXB4 transcript variant 2	NR_027780.2:n.742G>C	N/A	Non Coding Transcript Variant
HMGXB4 transcript variant 2	NR_027780.2:n.742G>T	N/A	Non Coding Transcript Variant
HMGXB4 transcript variant X1	XM_006724101.5:c.167G>A	G [GGC] > D [GAC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform X1	XP_006724164.2:p.Gly56Asp	G (Gly) > D (Asp)	Missense Variant
HMGXB4 transcript variant X1	XM_006724101.5:c.167G>C	G [GGC] > A [GCC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform X1	XP_006724164.2:p.Gly56Ala	G (Gly) > A (Ala)	Missense Variant
HMGXB4 transcript variant X1	XM_006724101.5:c.167G>T	G [GGC] > V [GTC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform X1	XP_006724164.2:p.Gly56Val	G (Gly) > V (Val)	Missense Variant
HMGXB4 transcript variant X2	XM_047441067.1:c.494G>A	G [GGC] > D [GAC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform X2	XP_047297023.1:p.Gly165Asp	G (Gly) > D (Asp)	Missense Variant
HMGXB4 transcript variant X2	XM_047441067.1:c.494G>C	G [GGC] > A [GCC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform X2	XP_047297023.1:p.Gly165Ala	G (Gly) > A (Ala)	Missense Variant
HMGXB4 transcript variant X2	XM_047441067.1:c.494G>T	G [GGC] > V [GTC]	Coding Sequence Variant
HMG domain-containing protein 4 isoform X2	XP_047297023.1:p.Gly165Val	G (Gly) > V (Val)	Missense 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: T (allele ID: 1224990 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001619468.3	not provided	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=	A	C	T
GRCh38.p14 chr 22	NC_000022.11:g.35264882=	NC_000022.11:g.35264882G>A	NC_000022.11:g.35264882G>C	NC_000022.11:g.35264882G>T
GRCh37.p13 chr 22	NC_000022.10:g.35660875=	NC_000022.10:g.35660875G>A	NC_000022.10:g.35660875G>C	NC_000022.10:g.35660875G>T
HMGXB4 transcript variant X1	XM_006724101.5:c.167=	XM_006724101.5:c.167G>A	XM_006724101.5:c.167G>C	XM_006724101.5:c.167G>T
HMGXB4 transcript variant X2	XM_006724101.4:c.623=	XM_006724101.4:c.623G>A	XM_006724101.4:c.623G>C	XM_006724101.4:c.623G>T
HMGXB4 transcript variant X2	XM_006724101.3:c.623=	XM_006724101.3:c.623G>A	XM_006724101.3:c.623G>C	XM_006724101.3:c.623G>T
HMGXB4 transcript variant X2	XM_006724101.2:c.623=	XM_006724101.2:c.623G>A	XM_006724101.2:c.623G>C	XM_006724101.2:c.623G>T
HMGXB4 transcript variant X2	XM_006724101.1:c.623=	XM_006724101.1:c.623G>A	XM_006724101.1:c.623G>C	XM_006724101.1:c.623G>T
HMGXB4 transcript variant 1	NM_005487.3:c.167=	NM_005487.3:c.167G>A	NM_005487.3:c.167G>C	NM_005487.3:c.167G>T
HMGXB4 transcript variant 1	NM_001003681.3:c.494=	NM_001003681.3:c.494G>A	NM_001003681.3:c.494G>C	NM_001003681.3:c.494G>T
HMGXB4 transcript variant 1	NM_001003681.2:c.494=	NM_001003681.2:c.494G>A	NM_001003681.2:c.494G>C	NM_001003681.2:c.494G>T
HMGXB4 transcript variant 2	NR_027780.2:n.742=	NR_027780.2:n.742G>A	NR_027780.2:n.742G>C	NR_027780.2:n.742G>T
HMGXB4 transcript variant 2	NR_027780.1:n.783=	NR_027780.1:n.783G>A	NR_027780.1:n.783G>C	NR_027780.1:n.783G>T
HMG2L1 transcript	NM_005487.2:c.167=	NM_005487.2:c.167G>A	NM_005487.2:c.167G>C	NM_005487.2:c.167G>T
HMGXB4 transcript variant 3	NM_001362972.2:c.167=	NM_001362972.2:c.167G>A	NM_001362972.2:c.167G>C	NM_001362972.2:c.167G>T
HMGXB4 transcript variant 3	NM_001362972.1:c.167=	NM_001362972.1:c.167G>A	NM_001362972.1:c.167G>C	NM_001362972.1:c.167G>T
HMGXB4 transcript variant X2	XM_047441067.1:c.494=	XM_047441067.1:c.494G>A	XM_047441067.1:c.494G>C	XM_047441067.1:c.494G>T
HMGXB4 transcript variant 2	NM_014250.1:c.167=	NM_014250.1:c.167G>A	NM_014250.1:c.167G>C	NM_014250.1:c.167G>T
HMG2L1 transcript	NM_005487.1:c.494=	NM_005487.1:c.494G>A	NM_005487.1:c.494G>C	NM_005487.1:c.494G>T
HMG domain-containing protein 4 isoform X1	XP_006724164.2:p.Gly56=	XP_006724164.2:p.Gly56Asp	XP_006724164.2:p.Gly56Ala	XP_006724164.2:p.Gly56Val
HMG domain-containing protein 4 isoform 1	NP_001003681.1:p.Gly165=	NP_001003681.1:p.Gly165Asp	NP_001003681.1:p.Gly165Ala	NP_001003681.1:p.Gly165Val
HMG domain-containing protein 4 isoform 2	NP_001349901.1:p.Gly56=	NP_001349901.1:p.Gly56Asp	NP_001349901.1:p.Gly56Ala	NP_001349901.1:p.Gly56Val
HMG domain-containing protein 4 isoform X2	XP_047297023.1:p.Gly165=	XP_047297023.1:p.Gly165Asp	XP_047297023.1:p.Gly165Ala	XP_047297023.1:p.Gly165Val

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#.

195 SubSNP, 32 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1530936	Oct 05, 2000 (86)
2	YUSUKE	ss3189174	Aug 15, 2001 (98)
3	LEE	ss4395865	May 29, 2002 (106)
4	LEE	ss4420277	May 29, 2002 (106)
5	SC_SNP	ss8006120	Apr 21, 2003 (114)
6	CGAP-GAI	ss16243181	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss20138712	Feb 27, 2004 (120)
8	SSAHASNP	ss21839186	Apr 05, 2004 (121)
9	MGC_GENOME_DIFF	ss28497386	Sep 24, 2004 (126)
10	MGC_GENOME_DIFF	ss28512064	Sep 24, 2004 (126)
11	MGC_GENOME_DIFF	ss28512736	Sep 24, 2004 (126)
12	MGC_GENOME_DIFF	ss28513014	Sep 24, 2004 (126)
13	PERLEGEN	ss38338807	May 24, 2005 (125)
14	ABI	ss44319023	Mar 10, 2006 (126)
15	KRIBB_YJKIM	ss65826685	Dec 03, 2006 (127)
16	ILLUMINA	ss66539816	Dec 03, 2006 (127)
17	ILLUMINA	ss66896191	Dec 03, 2006 (127)
18	ILLUMINA	ss67005887	Dec 03, 2006 (127)
19	PERLEGEN	ss69273251	May 16, 2007 (127)
20	ILLUMINA	ss70376827	May 16, 2007 (127)
21	ILLUMINA	ss70492239	May 25, 2008 (130)
22	ILLUMINA	ss71016902	May 16, 2007 (127)
23	AFFY	ss74810242	Aug 16, 2007 (128)
24	ILLUMINA	ss75170647	Dec 06, 2007 (129)
25	SI_EXO	ss76888045	Dec 06, 2007 (129)
26	HGSV	ss78827076	Dec 06, 2007 (129)
27	KRIBB_YJKIM	ss83674640	Dec 15, 2007 (130)
28	HGSV	ss86204380	Dec 15, 2007 (130)
29	CANCER-GENOME	ss86345288	Mar 23, 2008 (129)
30	BCMHGSC_JDW	ss91917522	Mar 24, 2008 (129)
31	HUMANGENOME_JCVI	ss96099871	Feb 05, 2009 (130)
32	BGI	ss103860972	Dec 01, 2009 (131)
33	1000GENOMES	ss112635592	Jan 25, 2009 (130)
34	ILLUMINA	ss120036673	Dec 01, 2009 (131)
35	ILLUMINA	ss121371640	Dec 01, 2009 (131)
36	ENSEMBL	ss138353451	Dec 01, 2009 (131)
37	ENSEMBL	ss143364629	Dec 01, 2009 (131)
38	ILLUMINA	ss152794529	Dec 01, 2009 (131)
39	GMI	ss157164685	Dec 01, 2009 (131)
40	ILLUMINA	ss159137044	Dec 01, 2009 (131)
41	SEATTLESEQ	ss159744347	Dec 01, 2009 (131)
42	ILLUMINA	ss159910348	Dec 01, 2009 (131)
43	COMPLETE_GENOMICS	ss167914149	Jul 04, 2010 (132)
44	ILLUMINA	ss169567714	Jul 04, 2010 (132)
45	ILLUMINA	ss170378998	Jul 04, 2010 (132)
46	COMPLETE_GENOMICS	ss171960842	Jul 04, 2010 (132)
47	BUSHMAN	ss204084998	Jul 04, 2010 (132)
48	BCM-HGSC-SUB	ss208820109	Jul 04, 2010 (132)
49	1000GENOMES	ss228675473	Jul 14, 2010 (132)
50	1000GENOMES	ss238066376	Jul 15, 2010 (132)
51	1000GENOMES	ss244185110	Jul 15, 2010 (132)
52	BL	ss255893562	May 09, 2011 (134)
53	GMI	ss283633072	May 04, 2012 (137)
54	GMI	ss287567880	Apr 25, 2013 (138)
55	PJP	ss292759292	May 09, 2011 (134)
56	NHLBI-ESP	ss342541144	May 09, 2011 (134)
57	ILLUMINA	ss410888121	Sep 17, 2011 (135)
58	ILLUMINA	ss479318203	May 04, 2012 (137)
59	ILLUMINA	ss479321437	May 04, 2012 (137)
60	ILLUMINA	ss479707277	Sep 08, 2015 (146)
61	ILLUMINA	ss484459421	May 04, 2012 (137)
62	1000GENOMES	ss491191797	May 04, 2012 (137)
63	EXOME_CHIP	ss491570921	May 04, 2012 (137)
64	CLINSEQ_SNP	ss491823594	May 04, 2012 (137)
65	ILLUMINA	ss536624147	Sep 08, 2015 (146)
66	TISHKOFF	ss566635476	Apr 25, 2013 (138)
67	SSMP	ss662566158	Apr 25, 2013 (138)
68	ILLUMINA	ss778361469	Sep 08, 2015 (146)
69	ILLUMINA	ss780762012	Sep 08, 2015 (146)
70	ILLUMINA	ss782676268	Sep 08, 2015 (146)
71	ILLUMINA	ss783441028	Sep 08, 2015 (146)
72	ILLUMINA	ss783644906	Sep 08, 2015 (146)
73	ILLUMINA	ss825346438	Apr 01, 2015 (144)
74	ILLUMINA	ss831927007	Sep 08, 2015 (146)
75	ILLUMINA	ss832649704	Jul 13, 2019 (153)
76	ILLUMINA	ss833816247	Sep 08, 2015 (146)
77	JMKIDD_LAB	ss974512697	Aug 21, 2014 (142)
78	EVA-GONL	ss995344276	Aug 21, 2014 (142)
79	JMKIDD_LAB	ss1067605856	Aug 21, 2014 (142)
80	JMKIDD_LAB	ss1082653477	Aug 21, 2014 (142)
81	1000GENOMES	ss1367137077	Aug 21, 2014 (142)
82	HAMMER_LAB	ss1397785476	Sep 08, 2015 (146)
83	DDI	ss1429254293	Apr 01, 2015 (144)
84	EVA_GENOME_DK	ss1579750400	Apr 01, 2015 (144)
85	EVA_FINRISK	ss1584127607	Apr 01, 2015 (144)
86	EVA_UK10K_ALSPAC	ss1639980262	Apr 01, 2015 (144)
87	EVA_UK10K_TWINSUK	ss1682974295	Apr 01, 2015 (144)
88	EVA_EXAC	ss1694321690	Apr 01, 2015 (144)
89	EVA_EXAC	ss1694321691	Apr 01, 2015 (144)
90	EVA_DECODE	ss1699414581	Apr 01, 2015 (144)
91	EVA_MGP	ss1711567979	Apr 01, 2015 (144)
92	EVA_SVP	ss1713740701	Apr 01, 2015 (144)
93	ILLUMINA	ss1752420245	Sep 08, 2015 (146)
94	ILLUMINA	ss1752420246	Sep 08, 2015 (146)
95	ILLUMINA	ss1917955346	Feb 12, 2016 (147)
96	WEILL_CORNELL_DGM	ss1938910753	Feb 12, 2016 (147)
97	ILLUMINA	ss1946589096	Feb 12, 2016 (147)
98	ILLUMINA	ss1959978167	Feb 12, 2016 (147)
99	GENOMED	ss1969271481	Jul 19, 2016 (147)
100	JJLAB	ss2030227653	Sep 14, 2016 (149)
101	USC_VALOUEV	ss2158846133	Dec 20, 2016 (150)
102	HUMAN_LONGEVITY	ss2247272131	Dec 20, 2016 (150)
103	SYSTEMSBIOZJU	ss2629611537	Nov 08, 2017 (151)
104	ILLUMINA	ss2633877240	Nov 08, 2017 (151)
105	GRF	ss2704597685	Nov 08, 2017 (151)
106	GNOMAD	ss2745103326	Nov 08, 2017 (151)
107	GNOMAD	ss2750544336	Nov 08, 2017 (151)
108	GNOMAD	ss2974306451	Nov 08, 2017 (151)
109	AFFY	ss2985238048	Nov 08, 2017 (151)
110	SWEGEN	ss3019292569	Nov 08, 2017 (151)
111	ILLUMINA	ss3022185006	Nov 08, 2017 (151)
112	EVA_SAMSUNG_MC	ss3023073495	Nov 08, 2017 (151)
113	BIOINF_KMB_FNS_UNIBA	ss3028951134	Nov 08, 2017 (151)
114	CSHL	ss3352834696	Nov 08, 2017 (151)
115	ILLUMINA	ss3628532351	Oct 12, 2018 (152)
116	ILLUMINA	ss3628532352	Oct 12, 2018 (152)
117	ILLUMINA	ss3631828602	Oct 12, 2018 (152)
118	ILLUMINA	ss3633273037	Oct 12, 2018 (152)
119	ILLUMINA	ss3633988793	Oct 12, 2018 (152)
120	ILLUMINA	ss3634867306	Oct 12, 2018 (152)
121	ILLUMINA	ss3634867307	Oct 12, 2018 (152)
122	ILLUMINA	ss3635673244	Oct 12, 2018 (152)
123	ILLUMINA	ss3636563159	Oct 12, 2018 (152)
124	ILLUMINA	ss3637425485	Oct 12, 2018 (152)
125	ILLUMINA	ss3638382170	Oct 12, 2018 (152)
126	ILLUMINA	ss3639194899	Oct 12, 2018 (152)
127	ILLUMINA	ss3639614105	Oct 12, 2018 (152)
128	ILLUMINA	ss3640574610	Oct 12, 2018 (152)
129	ILLUMINA	ss3640574611	Oct 12, 2018 (152)
130	ILLUMINA	ss3643341957	Oct 12, 2018 (152)
131	ILLUMINA	ss3644799981	Oct 12, 2018 (152)
132	OMUKHERJEE_ADBS	ss3646566870	Oct 12, 2018 (152)
133	URBANLAB	ss3651178346	Oct 12, 2018 (152)
134	ILLUMINA	ss3652648330	Oct 12, 2018 (152)
135	ILLUMINA	ss3654006100	Oct 12, 2018 (152)
136	EGCUT_WGS	ss3685788436	Jul 13, 2019 (153)
137	EVA_DECODE	ss3708187103	Jul 13, 2019 (153)
138	ILLUMINA	ss3725967650	Jul 13, 2019 (153)
139	ACPOP	ss3743928610	Jul 13, 2019 (153)
140	ILLUMINA	ss3744502498	Jul 13, 2019 (153)
141	ILLUMINA	ss3745167158	Jul 13, 2019 (153)
142	ILLUMINA	ss3745167159	Jul 13, 2019 (153)
143	EVA	ss3759374936	Jul 13, 2019 (153)
144	PAGE_CC	ss3772090569	Jul 13, 2019 (153)
145	ILLUMINA	ss3772663067	Jul 13, 2019 (153)
146	ILLUMINA	ss3772663068	Jul 13, 2019 (153)
147	PACBIO	ss3788825248	Jul 13, 2019 (153)
148	PACBIO	ss3793691204	Jul 13, 2019 (153)
149	PACBIO	ss3798577682	Jul 13, 2019 (153)
150	KHV_HUMAN_GENOMES	ss3822538753	Jul 13, 2019 (153)
151	EVA	ss3825442274	Apr 27, 2020 (154)
152	EVA	ss3825534244	Apr 27, 2020 (154)
153	EVA	ss3825548480	Apr 27, 2020 (154)
154	EVA	ss3825969963	Apr 27, 2020 (154)
155	EVA	ss3835988952	Apr 27, 2020 (154)
156	EVA	ss3841622354	Apr 27, 2020 (154)
157	EVA	ss3847137335	Apr 27, 2020 (154)
158	HGDP	ss3847689091	Apr 27, 2020 (154)
159	SGDP_PRJ	ss3890532321	Apr 27, 2020 (154)
160	KRGDB	ss3940927202	Apr 27, 2020 (154)
161	KOGIC	ss3983629206	Apr 27, 2020 (154)
162	FSA-LAB	ss3984234758	Apr 26, 2021 (155)
163	EVA	ss3984760337	Apr 26, 2021 (155)
164	EVA	ss3985917424	Apr 26, 2021 (155)
165	EVA	ss3986087659	Apr 26, 2021 (155)
166	EVA	ss3986861518	Apr 26, 2021 (155)
167	TOPMED	ss5108986992	Apr 26, 2021 (155)
168	TOMMO_GENOMICS	ss5232594996	Apr 26, 2021 (155)
169	EVA	ss5236990934	Apr 26, 2021 (155)
170	EVA	ss5237255923	Apr 26, 2021 (155)
171	1000G_HIGH_COVERAGE	ss5311077410	Oct 16, 2022 (156)
172	EVA	ss5316056415	Oct 16, 2022 (156)
173	EVA	ss5441259127	Oct 16, 2022 (156)
174	HUGCELL_USP	ss5502921783	Oct 16, 2022 (156)
175	EVA	ss5512380952	Oct 16, 2022 (156)
176	1000G_HIGH_COVERAGE	ss5618622576	Oct 16, 2022 (156)
177	EVA	ss5623983664	Oct 16, 2022 (156)
178	EVA	ss5624122230	Oct 16, 2022 (156)
179	SANFORD_IMAGENETICS	ss5624502951	Oct 16, 2022 (156)
180	SANFORD_IMAGENETICS	ss5664481221	Oct 16, 2022 (156)
181	TOMMO_GENOMICS	ss5793704772	Oct 16, 2022 (156)
182	EVA	ss5800041116	Oct 16, 2022 (156)
183	EVA	ss5800235946	Oct 16, 2022 (156)
184	YY_MCH	ss5818707680	Oct 16, 2022 (156)
185	EVA	ss5822063212	Oct 16, 2022 (156)
186	EVA	ss5847518283	Oct 16, 2022 (156)
187	EVA	ss5847943947	Oct 16, 2022 (156)
188	EVA	ss5848567422	Oct 16, 2022 (156)
189	EVA	ss5853392065	Oct 16, 2022 (156)
190	EVA	ss5881795155	Oct 16, 2022 (156)
191	EVA	ss5936580307	Oct 16, 2022 (156)
192	EVA	ss5959336632	Oct 16, 2022 (156)
193	EVA	ss5979637191	Oct 16, 2022 (156)
194	EVA	ss5981134514	Oct 16, 2022 (156)
195	EVA	ss5981322055	Oct 16, 2022 (156)
196	1000Genomes	NC_000022.10 - 35660875	Oct 12, 2018 (152)
197	1000Genomes_30x	NC_000022.11 - 35264882	Oct 16, 2022 (156)
198	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 35660875	Oct 12, 2018 (152)
199	Genome-wide autozygosity in Daghestan	NC_000022.9 - 33990875	Apr 27, 2020 (154)
200	Genetic variation in the Estonian population	NC_000022.10 - 35660875	Oct 12, 2018 (152)
201	ExAC Submission ignored due to conflicting rows: Row 5900939 (NC_000022.10:35660874:G:G 51190/121262, NC_000022.10:35660874:G:T 70072/121262) Row 5900940 (NC_000022.10:35660874:G:G 121261/121262, NC_000022.10:35660874:G:C 1/121262)	-	Oct 12, 2018 (152)
202	ExAC Submission ignored due to conflicting rows: Row 5900939 (NC_000022.10:35660874:G:G 51190/121262, NC_000022.10:35660874:G:T 70072/121262) Row 5900940 (NC_000022.10:35660874:G:G 121261/121262, NC_000022.10:35660874:G:C 1/121262)	-	Oct 12, 2018 (152)
203	FINRISK	NC_000022.10 - 35660875	Apr 27, 2020 (154)
204	The Danish reference pan genome	NC_000022.10 - 35660875	Apr 27, 2020 (154)
205	gnomAD - Genomes	NC_000022.11 - 35264882	Apr 26, 2021 (155)
206	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14434482 (NC_000022.10:35660874:G:G 251230/251232, NC_000022.10:35660874:G:C 2/251232) Row 14434483 (NC_000022.10:35660874:G:G 104272/251232, NC_000022.10:35660874:G:T 146960/251232)	-	Jul 13, 2019 (153)
207	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14434482 (NC_000022.10:35660874:G:G 251230/251232, NC_000022.10:35660874:G:C 2/251232) Row 14434483 (NC_000022.10:35660874:G:G 104272/251232, NC_000022.10:35660874:G:T 146960/251232)	-	Jul 13, 2019 (153)
208	GO Exome Sequencing Project	NC_000022.10 - 35660875	Oct 12, 2018 (152)
209	Genome of the Netherlands Release 5	NC_000022.10 - 35660875	Apr 27, 2020 (154)
210	HGDP-CEPH-db Supplement 1	NC_000022.9 - 33990875	Apr 27, 2020 (154)
211	HapMap	NC_000022.11 - 35264882	Apr 27, 2020 (154)
212	KOREAN population from KRGDB	NC_000022.10 - 35660875	Apr 27, 2020 (154)
213	Korean Genome Project	NC_000022.11 - 35264882	Apr 27, 2020 (154)
214	Medical Genome Project healthy controls from Spanish population	NC_000022.10 - 35660875	Apr 27, 2020 (154)
215	Northern Sweden	NC_000022.10 - 35660875	Jul 13, 2019 (153)
216	The PAGE Study	NC_000022.11 - 35264882	Jul 13, 2019 (153)
217	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000022.10 - 35660875	Apr 26, 2021 (155)
218	CNV burdens in cranial meningiomas	NC_000022.10 - 35660875	Apr 26, 2021 (155)
219	Qatari	NC_000022.10 - 35660875	Apr 27, 2020 (154)
220	SGDP_PRJ	NC_000022.10 - 35660875	Apr 27, 2020 (154)
221	Siberian	NC_000022.10 - 35660875	Apr 27, 2020 (154)
222	8.3KJPN	NC_000022.10 - 35660875	Apr 26, 2021 (155)
223	14KJPN	NC_000022.11 - 35264882	Oct 16, 2022 (156)
224	TopMed	NC_000022.11 - 35264882	Apr 26, 2021 (155)
225	UK 10K study - Twins	NC_000022.10 - 35660875	Oct 12, 2018 (152)
226	A Vietnamese Genetic Variation Database	NC_000022.10 - 35660875	Jul 13, 2019 (153)
227	ALFA	NC_000022.11 - 35264882	Apr 26, 2021 (155)
228	ClinVar	RCV001619468.3	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)
rs3171636	Jul 03, 2002 (106)
rs17845001	Mar 10, 2006 (126)
rs17857762	Mar 10, 2006 (126)
rs17858434	Mar 10, 2006 (126)
rs17858712	Mar 10, 2006 (126)
rs52801272	Sep 21, 2007 (128)
rs59409154	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
48104596, ss3940927202	NC_000022.10:35660874:G:A	NC_000022.11:35264881:G:A	(self)
ss1694321691, ss2745103326	NC_000022.10:35660874:G:C	NC_000022.11:35264881:G:C	(self)
ss78827076, ss86204380, ss3639194899, ss3639614105	NC_000022.8:33985428:G:T	NC_000022.11:35264881:G:T	(self)
299434, 366983, ss91917522, ss112635592, ss167914149, ss171960842, ss204084998, ss208820109, ss255893562, ss283633072, ss287567880, ss292759292, ss479318203, ss491823594, ss825346438, ss1397785476, ss1699414581, ss1713740701, ss3643341957, ss3847689091	NC_000022.9:33990874:G:T	NC_000022.11:35264881:G:T	(self)
80688218, 44633208, 31526684, 124068, 5915339, 1899106, 19889078, 48104596, 683739, 17213475, 1143351, 309922, 20952675, 42549301, 11362487, 90564303, 44633208, 9847570, ss228675473, ss238066376, ss244185110, ss342541144, ss479321437, ss479707277, ss484459421, ss491191797, ss491570921, ss536624147, ss566635476, ss662566158, ss778361469, ss780762012, ss782676268, ss783441028, ss783644906, ss831927007, ss832649704, ss833816247, ss974512697, ss995344276, ss1067605856, ss1082653477, ss1367137077, ss1429254293, ss1579750400, ss1584127607, ss1639980262, ss1682974295, ss1694321690, ss1711567979, ss1752420245, ss1752420246, ss1917955346, ss1938910753, ss1946589096, ss1959978167, ss1969271481, ss2030227653, ss2158846133, ss2629611537, ss2633877240, ss2704597685, ss2745103326, ss2750544336, ss2974306451, ss2985238048, ss3019292569, ss3022185006, ss3023073495, ss3352834696, ss3628532351, ss3628532352, ss3631828602, ss3633273037, ss3633988793, ss3634867306, ss3634867307, ss3635673244, ss3636563159, ss3637425485, ss3638382170, ss3640574610, ss3640574611, ss3644799981, ss3646566870, ss3652648330, ss3654006100, ss3685788436, ss3743928610, ss3744502498, ss3745167158, ss3745167159, ss3759374936, ss3772663067, ss3772663068, ss3788825248, ss3793691204, ss3798577682, ss3825442274, ss3825534244, ss3825548480, ss3825969963, ss3835988952, ss3841622354, ss3890532321, ss3940927202, ss3984234758, ss3984760337, ss3985917424, ss3986087659, ss3986861518, ss5232594996, ss5316056415, ss5441259127, ss5512380952, ss5623983664, ss5624122230, ss5624502951, ss5664481221, ss5800041116, ss5800235946, ss5822063212, ss5847518283, ss5847943947, ss5848567422, ss5936580307, ss5959336632, ss5979637191, ss5981134514, ss5981322055	NC_000022.10:35660874:G:T	NC_000022.11:35264881:G:T	(self)
RCV001619468.3, 106148511, 569782669, 2254460, 40007207, 1312038, 127541876, 384095939, 5602898400, ss2247272131, ss3028951134, ss3651178346, ss3708187103, ss3725967650, ss3772090569, ss3822538753, ss3847137335, ss3983629206, ss5108986992, ss5236990934, ss5237255923, ss5311077410, ss5502921783, ss5618622576, ss5793704772, ss5818707680, ss5853392065, ss5881795155	NC_000022.11:35264881:G:T	NC_000022.11:35264881:G:T	(self)
ss20138712, ss21839186	NT_011520.9:15051443:G:T	NC_000022.11:35264881:G:T	(self)
ss76888045	NT_011520.11:15051443:G:T	NC_000022.11:35264881:G:T	(self)
ss1530936, ss3189174, ss4395865, ss4420277, ss8006120, ss16243181, ss28497386, ss28512064, ss28512736, ss28513014, ss38338807, ss44319023, ss65826685, ss66539816, ss66896191, ss67005887, ss69273251, ss70376827, ss70492239, ss71016902, ss74810242, ss75170647, ss83674640, ss86345288, ss96099871, ss103860972, ss120036673, ss121371640, ss138353451, ss143364629, ss152794529, ss157164685, ss159137044, ss159744347, ss159910348, ss169567714, ss170378998, ss410888121	NT_011520.12:15051443:G:T	NC_000022.11:35264881: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 rs1053593

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1053593