Name: rs4533267
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.

rs4533267

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:100246066 (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>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.301007 (103155/342700, ALFA)
A=0.378798 (100264/264690, TOPMED)
A=0.369670 (51753/139998, GnomAD) (+ 20 more)
A=0.40604 (31956/78702, PAGE_STUDY)
A=0.11087 (3133/28258, 14KJPN)
A=0.11187 (1875/16760, 8.3KJPN)
A=0.3431 (2197/6404, 1000G_30x)
A=0.3317 (1661/5008, 1000G)
A=0.2513 (1126/4480, Estonian)
A=0.2862 (1103/3854, ALSPAC)
A=0.3010 (1116/3708, TWINSUK)
A=0.1512 (443/2930, KOREAN)
A=0.3330 (694/2084, HGDP_Stanford)
A=0.1507 (276/1832, Korea1K)
A=0.2558 (288/1126, Daghestan)
A=0.288 (287/998, GoNL)
A=0.238 (143/600, NorthernSweden)
A=0.233 (114/490, SGDP_PRJ)
A=0.495 (107/216, Qatari)
A=0.241 (51/212, Vietnamese)
A=0.20 (18/88, Ancient Sardinia)
A=0.09 (5/56, Siberian)
A=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADAMTS17 : Intron Variant
Publications: 6 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	347952	A=0.301976	C=0.000000, G=0.698024
European	Sub	297358	A=0.293471	C=0.000000, G=0.706529
African	Sub	11342	A=0.58579	C=0.00000, G=0.41421
African Others	Sub	422	A=0.621	C=0.000, G=0.379
African American	Sub	10920	A=0.58443	C=0.00000, G=0.41557
Asian	Sub	6858	A=0.1974	C=0.0000, G=0.8026
East Asian	Sub	4914	A=0.1779	C=0.0000, G=0.8221
Other Asian	Sub	1944	A=0.2469	C=0.0000, G=0.7531
Latin American 1	Sub	1150	A=0.3774	C=0.0000, G=0.6226
Latin American 2	Sub	8830	A=0.3221	C=0.0000, G=0.6779
South Asian	Sub	5144	A=0.2156	C=0.0000, G=0.7844
Other	Sub	17270	A=0.31395	C=0.00000, G=0.68605

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	342700	A=0.301007	C=0.000000, G=0.698993
Allele Frequency Aggregator	European	Sub	294084	A=0.293508	C=0.000000, G=0.706492
Allele Frequency Aggregator	Other	Sub	16448	A=0.31110	C=0.00000, G=0.68890
Allele Frequency Aggregator	African	Sub	10186	A=0.58718	C=0.00000, G=0.41282
Allele Frequency Aggregator	Latin American 2	Sub	8830	A=0.3221	C=0.0000, G=0.6779
Allele Frequency Aggregator	Asian	Sub	6858	A=0.1974	C=0.0000, G=0.8026
Allele Frequency Aggregator	South Asian	Sub	5144	A=0.2156	C=0.0000, G=0.7844
Allele Frequency Aggregator	Latin American 1	Sub	1150	A=0.3774	C=0.0000, G=0.6226
TopMed	Global	Study-wide	264690	A=0.378798	G=0.621202
gnomAD - Genomes	Global	Study-wide	139998	A=0.369670	G=0.630330
gnomAD - Genomes	European	Sub	75848	A=0.27865	G=0.72135
gnomAD - Genomes	African	Sub	41908	A=0.55717	G=0.44283
gnomAD - Genomes	American	Sub	13642	A=0.33521	G=0.66479
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.3808	G=0.6192
gnomAD - Genomes	East Asian	Sub	3130	A=0.2198	G=0.7802
gnomAD - Genomes	Other	Sub	2148	A=0.3454	G=0.6546
The PAGE Study	Global	Study-wide	78702	A=0.40604	G=0.59396
The PAGE Study	AfricanAmerican	Sub	32516	A=0.54964	G=0.45036
The PAGE Study	Mexican	Sub	10810	A=0.32414	G=0.67586
The PAGE Study	Asian	Sub	8318	A=0.1419	G=0.8581
The PAGE Study	PuertoRican	Sub	7918	A=0.3867	G=0.6133
The PAGE Study	NativeHawaiian	Sub	4534	A=0.2543	G=0.7457
The PAGE Study	Cuban	Sub	4230	A=0.3494	G=0.6506
The PAGE Study	Dominican	Sub	3828	A=0.4399	G=0.5601
The PAGE Study	CentralAmerican	Sub	2450	A=0.3461	G=0.6539
The PAGE Study	SouthAmerican	Sub	1982	A=0.2790	G=0.7210
The PAGE Study	NativeAmerican	Sub	1260	A=0.3381	G=0.6619
The PAGE Study	SouthAsian	Sub	856	A=0.229	G=0.771
14KJPN	JAPANESE	Study-wide	28258	A=0.11087	G=0.88913
8.3KJPN	JAPANESE	Study-wide	16760	A=0.11187	G=0.88813
1000Genomes_30x	Global	Study-wide	6404	A=0.3431	G=0.6569
1000Genomes_30x	African	Sub	1786	A=0.6153	G=0.3847
1000Genomes_30x	Europe	Sub	1266	A=0.2765	G=0.7235
1000Genomes_30x	South Asian	Sub	1202	A=0.1922	G=0.8078
1000Genomes_30x	East Asian	Sub	1170	A=0.2026	G=0.7974
1000Genomes_30x	American	Sub	980	A=0.286	G=0.714
1000Genomes	Global	Study-wide	5008	A=0.3317	G=0.6683
1000Genomes	African	Sub	1322	A=0.6074	G=0.3926
1000Genomes	East Asian	Sub	1008	A=0.1944	G=0.8056
1000Genomes	Europe	Sub	1006	A=0.2783	G=0.7217
1000Genomes	South Asian	Sub	978	A=0.187	G=0.813
1000Genomes	American	Sub	694	A=0.287	G=0.713
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.2513	G=0.7487
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.2862	G=0.7138
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3010	G=0.6990
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.1512	G=0.8488
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.3330	G=0.6670
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.206	G=0.794
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.280	G=0.720
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.434	G=0.566
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.272	G=0.728
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.612	G=0.388
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.361	G=0.639
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.22	G=0.78
Korean Genome Project	KOREAN	Study-wide	1832	A=0.1507	G=0.8493
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	A=0.2558	G=0.7442
Genome-wide autozygosity in Daghestan	Daghestan	Sub	620	A=0.253	G=0.747
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.312	G=0.688
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.213	G=0.787
Genome-wide autozygosity in Daghestan	Europe	Sub	106	A=0.264	G=0.736
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.18	G=0.82
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.39	G=0.61
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.288	G=0.712
Northern Sweden	ACPOP	Study-wide	600	A=0.238	G=0.762
SGDP_PRJ	Global	Study-wide	490	A=0.233	G=0.767
Qatari	Global	Study-wide	216	A=0.495	G=0.505
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.241	G=0.759
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	A=0.20	G=0.80
Siberian	Global	Study-wide	56	A=0.09	G=0.91
The Danish reference pan genome	Danish	Study-wide	40	A=0.15	G=0.85

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.100246066A>C
GRCh38.p14 chr 15	NC_000015.10:g.100246066A>G
GRCh37.p13 chr 15	NC_000015.9:g.100786271A>C
GRCh37.p13 chr 15	NC_000015.9:g.100786271A>G
ADAMTS17 RefSeqGene	NG_016287.2:g.100913T>G
ADAMTS17 RefSeqGene	NG_016287.2:g.100913T>C

Gene: ADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADAMTS17 transcript	NM_139057.4:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X5	XM_005254872.4:c.1075+807… XM_005254872.4:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X4	XM_011521312.3:c.1075+807… XM_011521312.3:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X1	XM_017021973.3:c.1075+807… XM_017021973.3:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X2	XM_017021974.2:c.1075+807… XM_017021974.2:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X3	XM_017021975.2:c.1075+807… XM_017021975.2:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X6	XM_017021977.2:c.1075+807… XM_017021977.2:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X11	XM_017021979.2:c.-8+8070T… XM_017021979.2:c.-8+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X13	XM_017021981.2:c.1075+807… XM_017021981.2:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X17	XM_017021984.2:c.346+8070… XM_017021984.2:c.346+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X14	XM_047432213.1:c.1075+807… XM_047432213.1:c.1075+8070T>G	N/A	Intron Variant
ADAMTS17 transcript variant X10	XM_017021978.2:c.	N/A	Genic Upstream Transcript Variant
ADAMTS17 transcript variant X12	XM_017021980.2:c.	N/A	Genic Upstream Transcript Variant
ADAMTS17 transcript variant X15	XM_017021982.2:c.	N/A	Genic Upstream Transcript Variant
ADAMTS17 transcript variant X16	XM_017021983.2:c.	N/A	Genic Upstream Transcript Variant
ADAMTS17 transcript variant X7	XR_001751118.2:n.	N/A	Intron Variant
ADAMTS17 transcript variant X8	XR_001751119.2:n.	N/A	Intron Variant
ADAMTS17 transcript variant X9	XR_001751120.2: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	A=	C	G
GRCh38.p14 chr 15	NC_000015.10:g.100246066=	NC_000015.10:g.100246066A>C	NC_000015.10:g.100246066A>G
GRCh37.p13 chr 15	NC_000015.9:g.100786271=	NC_000015.9:g.100786271A>C	NC_000015.9:g.100786271A>G
ADAMTS17 RefSeqGene	NG_016287.2:g.100913=	NG_016287.2:g.100913T>G	NG_016287.2:g.100913T>C
ADAMTS17 transcript	NM_139057.2:c.1075+8070=	NM_139057.2:c.1075+8070T>G	NM_139057.2:c.1075+8070T>C
ADAMTS17 transcript	NM_139057.4:c.1075+8070=	NM_139057.4:c.1075+8070T>G	NM_139057.4:c.1075+8070T>C
ADAMTS17 transcript variant X1	XM_005254872.1:c.1075+8070=	XM_005254872.1:c.1075+8070T>G	XM_005254872.1:c.1075+8070T>C
ADAMTS17 transcript variant X5	XM_005254872.4:c.1075+8070=	XM_005254872.4:c.1075+8070T>G	XM_005254872.4:c.1075+8070T>C
ADAMTS17 transcript variant X2	XM_005254873.1:c.346+8070=	XM_005254873.1:c.346+8070T>G	XM_005254873.1:c.346+8070T>C
ADAMTS17 transcript variant X4	XM_011521312.3:c.1075+8070=	XM_011521312.3:c.1075+8070T>G	XM_011521312.3:c.1075+8070T>C
ADAMTS17 transcript variant X1	XM_017021973.3:c.1075+8070=	XM_017021973.3:c.1075+8070T>G	XM_017021973.3:c.1075+8070T>C
ADAMTS17 transcript variant X2	XM_017021974.2:c.1075+8070=	XM_017021974.2:c.1075+8070T>G	XM_017021974.2:c.1075+8070T>C
ADAMTS17 transcript variant X3	XM_017021975.2:c.1075+8070=	XM_017021975.2:c.1075+8070T>G	XM_017021975.2:c.1075+8070T>C
ADAMTS17 transcript variant X6	XM_017021977.2:c.1075+8070=	XM_017021977.2:c.1075+8070T>G	XM_017021977.2:c.1075+8070T>C
ADAMTS17 transcript variant X11	XM_017021979.2:c.-8+8070=	XM_017021979.2:c.-8+8070T>G	XM_017021979.2:c.-8+8070T>C
ADAMTS17 transcript variant X13	XM_017021981.2:c.1075+8070=	XM_017021981.2:c.1075+8070T>G	XM_017021981.2:c.1075+8070T>C
ADAMTS17 transcript variant X17	XM_017021984.2:c.346+8070=	XM_017021984.2:c.346+8070T>G	XM_017021984.2:c.346+8070T>C
ADAMTS17 transcript variant X14	XM_047432213.1:c.1075+8070=	XM_047432213.1:c.1075+8070T>G	XM_047432213.1:c.1075+8070T>C

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#.

170 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss6117106	Feb 20, 2003 (111)
2	CSHL-HAPMAP	ss19331262	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss20012640	Feb 27, 2004 (120)
4	SSAHASNP	ss21289074	Apr 05, 2004 (121)
5	PERLEGEN	ss23750178	Sep 20, 2004 (123)
6	ABI	ss43776823	Mar 13, 2006 (126)
7	AFFY	ss66327478	Nov 29, 2006 (127)
8	ILLUMINA	ss66587206	Nov 29, 2006 (127)
9	ILLUMINA	ss67343769	Nov 29, 2006 (127)
10	ILLUMINA	ss67738108	Nov 29, 2006 (127)
11	PERLEGEN	ss69188141	May 16, 2007 (127)
12	ILLUMINA	ss70808398	May 24, 2008 (130)
13	ILLUMINA	ss71388275	May 16, 2007 (127)
14	ILLUMINA	ss74936861	Dec 06, 2007 (129)
15	AFFY	ss76021681	Dec 06, 2007 (129)
16	ILLUMINA	ss79184770	Dec 14, 2007 (130)
17	KRIBB_YJKIM	ss84286246	Dec 14, 2007 (130)
18	BCMHGSC_JDW	ss90277533	Mar 24, 2008 (129)
19	HUMANGENOME_JCVI	ss96840381	Feb 04, 2009 (130)
20	BGI	ss106452082	Feb 04, 2009 (130)
21	1000GENOMES	ss109097840	Jan 23, 2009 (130)
22	ILLUMINA-UK	ss118359592	Feb 14, 2009 (130)
23	ILLUMINA	ss122326042	Dec 01, 2009 (131)
24	ENSEMBL	ss136529427	Dec 01, 2009 (131)
25	ENSEMBL	ss136807031	Dec 01, 2009 (131)
26	ILLUMINA	ss154299120	Dec 01, 2009 (131)
27	GMI	ss156944486	Dec 01, 2009 (131)
28	ILLUMINA	ss159475983	Dec 01, 2009 (131)
29	ILLUMINA	ss160685433	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss168590924	Jul 04, 2010 (132)
31	AFFY	ss170520405	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss171620615	Jul 04, 2010 (132)
33	ILLUMINA	ss171817253	Jul 04, 2010 (132)
34	ILLUMINA	ss173748634	Jul 04, 2010 (132)
35	BUSHMAN	ss201278231	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss207215311	Jul 04, 2010 (132)
37	1000GENOMES	ss211665032	Jul 14, 2010 (132)
38	1000GENOMES	ss227077492	Jul 14, 2010 (132)
39	1000GENOMES	ss236907834	Jul 15, 2010 (132)
40	1000GENOMES	ss243270726	Jul 15, 2010 (132)
41	BL	ss255253863	May 09, 2011 (134)
42	GMI	ss282392320	May 04, 2012 (137)
43	GMI	ss287014388	Apr 25, 2013 (138)
44	PJP	ss291790370	May 09, 2011 (134)
45	ILLUMINA	ss480964673	May 04, 2012 (137)
46	ILLUMINA	ss480984685	May 04, 2012 (137)
47	ILLUMINA	ss481955894	Sep 08, 2015 (146)
48	ILLUMINA	ss485277258	May 04, 2012 (137)
49	EXOME_CHIP	ss491500295	May 04, 2012 (137)
50	ILLUMINA	ss537243617	Sep 08, 2015 (146)
51	TISHKOFF	ss564699609	Apr 25, 2013 (138)
52	SSMP	ss660442720	Apr 25, 2013 (138)
53	ILLUMINA	ss778910319	Sep 08, 2015 (146)
54	ILLUMINA	ss780685118	Sep 08, 2015 (146)
55	ILLUMINA	ss783084551	Sep 08, 2015 (146)
56	ILLUMINA	ss783358595	Sep 08, 2015 (146)
57	ILLUMINA	ss784042109	Sep 08, 2015 (146)
58	ILLUMINA	ss825515288	Jul 19, 2016 (147)
59	ILLUMINA	ss832342933	Sep 08, 2015 (146)
60	ILLUMINA	ss832987443	Jul 13, 2019 (153)
61	ILLUMINA	ss834371661	Sep 08, 2015 (146)
62	EVA-GONL	ss992157487	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1080396966	Aug 21, 2014 (142)
64	1000GENOMES	ss1354892556	Aug 21, 2014 (142)
65	HAMMER_LAB	ss1397707750	Sep 08, 2015 (146)
66	DDI	ss1427739910	Apr 01, 2015 (144)
67	EVA_GENOME_DK	ss1577784017	Apr 01, 2015 (144)
68	EVA_UK10K_ALSPAC	ss1633761484	Apr 01, 2015 (144)
69	EVA_UK10K_TWINSUK	ss1676755517	Apr 01, 2015 (144)
70	EVA_DECODE	ss1696189806	Apr 01, 2015 (144)
71	EVA_SVP	ss1713517382	Apr 01, 2015 (144)
72	ILLUMINA	ss1752151677	Sep 08, 2015 (146)
73	ILLUMINA	ss1752151678	Sep 08, 2015 (146)
74	HAMMER_LAB	ss1808364089	Sep 08, 2015 (146)
75	ILLUMINA	ss1917901442	Feb 12, 2016 (147)
76	WEILL_CORNELL_DGM	ss1935560200	Feb 12, 2016 (147)
77	ILLUMINA	ss1946404251	Feb 12, 2016 (147)
78	ILLUMINA	ss1946404252	Feb 12, 2016 (147)
79	ILLUMINA	ss1959644722	Feb 12, 2016 (147)
80	ILLUMINA	ss1959644723	Feb 12, 2016 (147)
81	GENOMED	ss1968192459	Jul 19, 2016 (147)
82	JJLAB	ss2028567287	Sep 14, 2016 (149)
83	ILLUMINA	ss2094798880	Dec 20, 2016 (150)
84	ILLUMINA	ss2095062053	Dec 20, 2016 (150)
85	USC_VALOUEV	ss2156975350	Nov 08, 2017 (151)
86	HUMAN_LONGEVITY	ss2209661057	Dec 20, 2016 (150)
87	SYSTEMSBIOZJU	ss2628778497	Nov 08, 2017 (151)
88	ILLUMINA	ss2633278303	Nov 08, 2017 (151)
89	ILLUMINA	ss2633278304	Nov 08, 2017 (151)
90	ILLUMINA	ss2633278305	Nov 08, 2017 (151)
91	GRF	ss2701466386	Nov 08, 2017 (151)
92	ILLUMINA	ss2710825403	Nov 08, 2017 (151)
93	GNOMAD	ss2938956575	Nov 08, 2017 (151)
94	AFFY	ss2985053873	Nov 08, 2017 (151)
95	AFFY	ss2985693642	Nov 08, 2017 (151)
96	SWEGEN	ss3013864937	Nov 08, 2017 (151)
97	ILLUMINA	ss3021668460	Nov 08, 2017 (151)
98	BIOINF_KMB_FNS_UNIBA	ss3028108578	Nov 08, 2017 (151)
99	CSHL	ss3351276882	Nov 08, 2017 (151)
100	ILLUMINA	ss3625682775	Oct 12, 2018 (152)
101	ILLUMINA	ss3627448998	Oct 12, 2018 (152)
102	ILLUMINA	ss3627448999	Oct 12, 2018 (152)
103	ILLUMINA	ss3631268023	Oct 12, 2018 (152)
104	ILLUMINA	ss3633110274	Oct 12, 2018 (152)
105	ILLUMINA	ss3633815496	Oct 12, 2018 (152)
106	ILLUMINA	ss3634624957	Oct 12, 2018 (152)
107	ILLUMINA	ss3634624958	Oct 12, 2018 (152)
108	ILLUMINA	ss3635504098	Oct 12, 2018 (152)
109	ILLUMINA	ss3636315792	Oct 12, 2018 (152)
110	ILLUMINA	ss3637255452	Oct 12, 2018 (152)
111	ILLUMINA	ss3638106826	Oct 12, 2018 (152)
112	ILLUMINA	ss3639066062	Oct 12, 2018 (152)
113	ILLUMINA	ss3639538842	Oct 12, 2018 (152)
114	ILLUMINA	ss3640332277	Oct 12, 2018 (152)
115	ILLUMINA	ss3640332278	Oct 12, 2018 (152)
116	ILLUMINA	ss3641066465	Oct 12, 2018 (152)
117	ILLUMINA	ss3641361931	Oct 12, 2018 (152)
118	ILLUMINA	ss3643089387	Oct 12, 2018 (152)
119	ILLUMINA	ss3644657371	Oct 12, 2018 (152)
120	ILLUMINA	ss3644657372	Oct 12, 2018 (152)
121	URBANLAB	ss3650435513	Oct 12, 2018 (152)
122	ILLUMINA	ss3652071900	Oct 12, 2018 (152)
123	ILLUMINA	ss3653826069	Oct 12, 2018 (152)
124	EGCUT_WGS	ss3680998197	Jul 13, 2019 (153)
125	EVA_DECODE	ss3698600469	Jul 13, 2019 (153)
126	ILLUMINA	ss3725531513	Jul 13, 2019 (153)
127	ACPOP	ss3741232258	Jul 13, 2019 (153)
128	ILLUMINA	ss3744136579	Jul 13, 2019 (153)
129	ILLUMINA	ss3744425572	Jul 13, 2019 (153)
130	ILLUMINA	ss3744925456	Jul 13, 2019 (153)
131	ILLUMINA	ss3744925457	Jul 13, 2019 (153)
132	EVA	ss3753533227	Jul 13, 2019 (153)
133	PAGE_CC	ss3771856099	Jul 13, 2019 (153)
134	ILLUMINA	ss3772423935	Jul 13, 2019 (153)
135	ILLUMINA	ss3772423936	Jul 13, 2019 (153)
136	PACBIO	ss3787947721	Jul 13, 2019 (153)
137	PACBIO	ss3792944205	Jul 13, 2019 (153)
138	PACBIO	ss3797828895	Jul 13, 2019 (153)
139	KHV_HUMAN_GENOMES	ss3818835152	Jul 13, 2019 (153)
140	EVA	ss3834414021	Apr 27, 2020 (154)
141	EVA	ss3840811148	Apr 27, 2020 (154)
142	EVA	ss3846301647	Apr 27, 2020 (154)
143	HGDP	ss3847535801	Apr 27, 2020 (154)
144	SGDP_PRJ	ss3883670953	Apr 27, 2020 (154)
145	KRGDB	ss3932933996	Apr 27, 2020 (154)
146	KOGIC	ss3976874413	Apr 27, 2020 (154)
147	EVA	ss3984707515	Apr 26, 2021 (155)
148	EVA	ss3984707516	Apr 26, 2021 (155)
149	EVA	ss3985739381	Apr 26, 2021 (155)
150	EVA	ss4017720849	Apr 26, 2021 (155)
151	TOPMED	ss5003785271	Apr 26, 2021 (155)
152	TOMMO_GENOMICS	ss5217852313	Apr 26, 2021 (155)
153	1000G_HIGH_COVERAGE	ss5299700343	Oct 16, 2022 (156)
154	EVA	ss5315814102	Oct 16, 2022 (156)
155	EVA	ss5421533928	Oct 16, 2022 (156)
156	HUGCELL_USP	ss5493287475	Oct 16, 2022 (156)
157	EVA	ss5511536959	Oct 16, 2022 (156)
158	1000G_HIGH_COVERAGE	ss5601727803	Oct 16, 2022 (156)
159	SANFORD_IMAGENETICS	ss5624371187	Oct 16, 2022 (156)
160	SANFORD_IMAGENETICS	ss5658220481	Oct 16, 2022 (156)
161	TOMMO_GENOMICS	ss5772155200	Oct 16, 2022 (156)
162	EVA	ss5799948954	Oct 16, 2022 (156)
163	YY_MCH	ss5815649778	Oct 16, 2022 (156)
164	EVA	ss5828688533	Oct 16, 2022 (156)
165	EVA	ss5847456223	Oct 16, 2022 (156)
166	EVA	ss5847757345	Oct 16, 2022 (156)
167	EVA	ss5851441054	Oct 16, 2022 (156)
168	EVA	ss5877315541	Oct 16, 2022 (156)
169	EVA	ss5949650060	Oct 16, 2022 (156)
170	EVA	ss5979473856	Oct 16, 2022 (156)
171	1000Genomes	NC_000015.9 - 100786271	Oct 12, 2018 (152)
172	1000Genomes_30x	NC_000015.10 - 100246066	Oct 16, 2022 (156)
173	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 100786271	Oct 12, 2018 (152)
174	Genome-wide autozygosity in Daghestan	NC_000015.8 - 98603794	Apr 27, 2020 (154)
175	Genetic variation in the Estonian population	NC_000015.9 - 100786271	Oct 12, 2018 (152)
176	The Danish reference pan genome	NC_000015.9 - 100786271	Apr 27, 2020 (154)
177	gnomAD - Genomes	NC_000015.10 - 100246066	Apr 26, 2021 (155)
178	Genome of the Netherlands Release 5	NC_000015.9 - 100786271	Apr 27, 2020 (154)
179	HGDP-CEPH-db Supplement 1	NC_000015.8 - 98603794	Apr 27, 2020 (154)
180	KOREAN population from KRGDB	NC_000015.9 - 100786271	Apr 27, 2020 (154)
181	Korean Genome Project	NC_000015.10 - 100246066	Apr 27, 2020 (154)
182	Northern Sweden	NC_000015.9 - 100786271	Jul 13, 2019 (153)
183	The PAGE Study	NC_000015.10 - 100246066	Jul 13, 2019 (153)
184	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 100786271	Apr 26, 2021 (155)
185	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 257044 (NC_000015.9:100786270:A:G 629/784) Row 257045 (NC_000015.9:100786270:A:G 632/788)	-	Apr 26, 2021 (155)
186	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 257044 (NC_000015.9:100786270:A:G 629/784) Row 257045 (NC_000015.9:100786270:A:G 632/788)	-	Apr 26, 2021 (155)
187	Qatari	NC_000015.9 - 100786271	Apr 27, 2020 (154)
188	SGDP_PRJ	NC_000015.9 - 100786271	Apr 27, 2020 (154)
189	Siberian	NC_000015.9 - 100786271	Apr 27, 2020 (154)
190	8.3KJPN	NC_000015.9 - 100786271	Apr 26, 2021 (155)
191	14KJPN	NC_000015.10 - 100246066	Oct 16, 2022 (156)
192	TopMed	NC_000015.10 - 100246066	Apr 26, 2021 (155)
193	UK 10K study - Twins	NC_000015.9 - 100786271	Oct 12, 2018 (152)
194	A Vietnamese Genetic Variation Database	NC_000015.9 - 100786271	Jul 13, 2019 (153)
195	ALFA	NC_000015.10 - 100246066	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)
rs57875336	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6217416775	NC_000015.10:100246065:A:C	NC_000015.10:100246065:A:C	(self)
177822, 213693, ss90277533, ss109097840, ss118359592, ss168590924, ss171620615, ss201278231, ss207215311, ss211665032, ss255253863, ss282392320, ss287014388, ss291790370, ss480964673, ss825515288, ss1397707750, ss1696189806, ss1713517382, ss3639066062, ss3639538842, ss3643089387, ss3847535801	NC_000015.8:98603793:A:G	NC_000015.10:100246065:A:G	(self)
68015292, 37776126, 26736445, 4001743, 16854780, 40111390, 14517123, 965308, 17602122, 35687933, 9491704, 75821620, 37776126, 8397433, ss227077492, ss236907834, ss243270726, ss480984685, ss481955894, ss485277258, ss491500295, ss537243617, ss564699609, ss660442720, ss778910319, ss780685118, ss783084551, ss783358595, ss784042109, ss832342933, ss832987443, ss834371661, ss992157487, ss1080396966, ss1354892556, ss1427739910, ss1577784017, ss1633761484, ss1676755517, ss1752151677, ss1752151678, ss1808364089, ss1917901442, ss1935560200, ss1946404251, ss1946404252, ss1959644722, ss1959644723, ss1968192459, ss2028567287, ss2094798880, ss2095062053, ss2156975350, ss2628778497, ss2633278303, ss2633278304, ss2633278305, ss2701466386, ss2710825403, ss2938956575, ss2985053873, ss2985693642, ss3013864937, ss3021668460, ss3351276882, ss3625682775, ss3627448998, ss3627448999, ss3631268023, ss3633110274, ss3633815496, ss3634624957, ss3634624958, ss3635504098, ss3636315792, ss3637255452, ss3638106826, ss3640332277, ss3640332278, ss3641066465, ss3641361931, ss3644657371, ss3644657372, ss3652071900, ss3653826069, ss3680998197, ss3741232258, ss3744136579, ss3744425572, ss3744925456, ss3744925457, ss3753533227, ss3772423935, ss3772423936, ss3787947721, ss3792944205, ss3797828895, ss3834414021, ss3840811148, ss3883670953, ss3932933996, ss3984707515, ss3984707516, ss3985739381, ss4017720849, ss5217852313, ss5315814102, ss5421533928, ss5511536959, ss5624371187, ss5658220481, ss5799948954, ss5828688533, ss5847456223, ss5847757345, ss5949650060, ss5979473856	NC_000015.9:100786270:A:G	NC_000015.10:100246065:A:G	(self)
89253738, 479415285, 33252414, 1077568, 105992304, 219330931, 6217416775, ss2209661057, ss3028108578, ss3650435513, ss3698600469, ss3725531513, ss3771856099, ss3818835152, ss3846301647, ss3976874413, ss5003785271, ss5299700343, ss5493287475, ss5601727803, ss5772155200, ss5815649778, ss5851441054, ss5877315541	NC_000015.10:100246065:A:G	NC_000015.10:100246065:A:G	(self)
ss6117106, ss23750178, ss43776823, ss66327478, ss66587206, ss67343769, ss67738108, ss69188141, ss70808398, ss71388275, ss74936861, ss76021681, ss79184770, ss84286246, ss96840381, ss106452082, ss122326042, ss136529427, ss136807031, ss154299120, ss156944486, ss159475983, ss160685433, ss170520405, ss171817253, ss173748634	NT_010274.17:15751797:A:G	NC_000015.10:100246065:A:G	(self)
ss19331262, ss20012640, ss21289074	NT_035325.5:2228007:A:G	NC_000015.10:100246065:A:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

6 citations for rs4533267

PMID	Title	Author	Year	Journal
19030899	Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.	Lei SF et al.	2009	Human genetics
19197348	Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.	Lowe JK et al.	2009	PLoS genetics
20017971	Assessing the impact of global versus local ancestry in association studies.	Kang SJ et al.	2009	BMC proceedings
20397748	Genome-wide association study of height and body mass index in Australian twin families.	Liu JZ et al.	2010	Twin research and human genetics
20546612	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	Zhao J et al.	2010	BMC medical genetics
20966902	Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.	Croteau-Chonka DC et al.	2011	Obesity (Silver Spring, Md.)

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4533267