Name: rs530537
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.

rs530537

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:105027786 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.491866 (130192/264690, TOPMED)
C=0.494623 (69177/139858, GnomAD)
C=0.26343 (7444/28258, 14KJPN) (+ 17 more)
C=0.47374 (8949/18890, ALFA)
C=0.26256 (4400/16758, 8.3KJPN)
C=0.4563 (2922/6404, 1000G_30x)
C=0.4501 (2254/5008, 1000G)
C=0.4739 (2123/4480, Estonian)
C=0.4450 (1715/3854, ALSPAC)
C=0.4577 (1697/3708, TWINSUK)
C=0.2235 (655/2930, KOREAN)
C=0.2112 (387/1832, Korea1K)
C=0.452 (451/998, GoNL)
C=0.467 (280/600, NorthernSweden)
T=0.325 (119/366, SGDP_PRJ)
C=0.451 (148/328, HapMap)
C=0.301 (65/216, Qatari)
C=0.266 (57/214, Vietnamese)
C=0.47 (19/40, GENOME_DK)
T=0.35 (12/34, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CASP1 : Intron Variant
LOC124902742 : Intron Variant
Publications: 3 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	18890	T=0.52626	C=0.47374	0.283854	0.231339	0.484807	4
European	Sub	14286	T=0.55201	C=0.44799	0.308694	0.204676	0.48663	1
African	Sub	2946	T=0.3951	C=0.6049	0.156823	0.366599	0.476578	0
African Others	Sub	114	T=0.316	C=0.684	0.070175	0.438596	0.491228	1
African American	Sub	2832	T=0.3983	C=0.6017	0.160311	0.363701	0.475989	0
Asian	Sub	112	T=0.688	C=0.312	0.410714	0.035714	0.553571	3
East Asian	Sub	86	T=0.69	C=0.31	0.395349	0.023256	0.581395	3
Other Asian	Sub	26	T=0.69	C=0.31	0.461538	0.076923	0.461538	0
Latin American 1	Sub	146	T=0.555	C=0.445	0.356164	0.246575	0.39726	2
Latin American 2	Sub	610	T=0.530	C=0.470	0.281967	0.222951	0.495082	0
South Asian	Sub	98	T=0.65	C=0.35	0.428571	0.122449	0.44898	0
Other	Sub	692	T=0.500	C=0.500	0.257225	0.257225	0.485549	0

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	T=0.508134	C=0.491866
gnomAD - Genomes	Global	Study-wide	139858	T=0.505377	C=0.494623
gnomAD - Genomes	European	Sub	75774	T=0.55200	C=0.44800
gnomAD - Genomes	African	Sub	41924	T=0.38980	C=0.61020
gnomAD - Genomes	American	Sub	13584	T=0.51178	C=0.48822
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.6322	C=0.3678
gnomAD - Genomes	East Asian	Sub	3112	T=0.7478	C=0.2522
gnomAD - Genomes	Other	Sub	2144	T=0.5289	C=0.4711
14KJPN	JAPANESE	Study-wide	28258	T=0.73657	C=0.26343
Allele Frequency Aggregator	Total	Global	18890	T=0.52626	C=0.47374
Allele Frequency Aggregator	European	Sub	14286	T=0.55201	C=0.44799
Allele Frequency Aggregator	African	Sub	2946	T=0.3951	C=0.6049
Allele Frequency Aggregator	Other	Sub	692	T=0.500	C=0.500
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.530	C=0.470
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.555	C=0.445
Allele Frequency Aggregator	Asian	Sub	112	T=0.688	C=0.312
Allele Frequency Aggregator	South Asian	Sub	98	T=0.65	C=0.35
8.3KJPN	JAPANESE	Study-wide	16758	T=0.73744	C=0.26256
1000Genomes_30x	Global	Study-wide	6404	T=0.5437	C=0.4563
1000Genomes_30x	African	Sub	1786	T=0.3589	C=0.6411
1000Genomes_30x	Europe	Sub	1266	T=0.5442	C=0.4558
1000Genomes_30x	South Asian	Sub	1202	T=0.6364	C=0.3636
1000Genomes_30x	East Asian	Sub	1170	T=0.7316	C=0.2684
1000Genomes_30x	American	Sub	980	T=0.542	C=0.458
1000Genomes	Global	Study-wide	5008	T=0.5499	C=0.4501
1000Genomes	African	Sub	1322	T=0.3631	C=0.6369
1000Genomes	East Asian	Sub	1008	T=0.7292	C=0.2708
1000Genomes	Europe	Sub	1006	T=0.5557	C=0.4443
1000Genomes	South Asian	Sub	978	T=0.625	C=0.375
1000Genomes	American	Sub	694	T=0.532	C=0.468
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5261	C=0.4739
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5550	C=0.4450
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5423	C=0.4577
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7765	C=0.2235
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7888	C=0.2112
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.548	C=0.452
Northern Sweden	ACPOP	Study-wide	600	T=0.533	C=0.467
SGDP_PRJ	Global	Study-wide	366	T=0.325	C=0.675
HapMap	Global	Study-wide	328	T=0.549	C=0.451
HapMap	African	Sub	120	T=0.392	C=0.608
HapMap	American	Sub	118	T=0.542	C=0.458
HapMap	Asian	Sub	90	T=0.77	C=0.23
Qatari	Global	Study-wide	216	T=0.699	C=0.301
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.734	C=0.266
The Danish reference pan genome	Danish	Study-wide	40	T=0.53	C=0.47
Siberian	Global	Study-wide	34	T=0.35	C=0.65

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 11	NC_000011.10:g.105027786T>C
GRCh37.p13 chr 11	NC_000011.9:g.104898513T>C
CASP1 RefSeqGene	NG_029124.2:g.12345A>G

Gene: CASP1, caspase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CASP1 transcript variant beta	NM_001223.5:c.944-835A>G	N/A	Intron Variant
CASP1 transcript variant 6	NM_001257118.3:c.1007-835… NM_001257118.3:c.1007-835A>G	N/A	Intron Variant
CASP1 transcript variant 7	NM_001257119.3:c.944-835A… NM_001257119.3:c.944-835A>G	N/A	Intron Variant
CASP1 transcript variant alpha	NM_033292.4:c.1007-835A>G	N/A	Intron Variant
CASP1 transcript variant gamma	NM_033293.4:c.728-835A>G	N/A	Intron Variant
CASP1 transcript variant delta	NM_033294.4:c.584-835A>G	N/A	Intron Variant
CASP1 transcript variant epsilon	NM_033295.4:c.59-835A>G	N/A	Intron Variant
CASP1 transcript variant X1	XM_017018393.2:c.1139-835… XM_017018393.2:c.1139-835A>G	N/A	Intron Variant
CASP1 transcript variant X2	XM_017018394.2:c.1139-835… XM_017018394.2:c.1139-835A>G	N/A	Intron Variant
CASP1 transcript variant X3	XM_017018395.2:c.1076-835… XM_017018395.2:c.1076-835A>G	N/A	Intron Variant
CASP1 transcript variant X5	XM_017018396.2:c.917-835A… XM_017018396.2:c.917-835A>G	N/A	Intron Variant
CASP1 transcript variant X4	XM_047427675.1:c.959-835A… XM_047427675.1:c.959-835A>G	N/A	Intron Variant

Gene: LOC124902742, uncharacterized LOC124902742 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124902742 transcript variant X1	XR_007062869.1: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	T=	C
GRCh38.p14 chr 11	NC_000011.10:g.105027786=	NC_000011.10:g.105027786T>C
GRCh37.p13 chr 11	NC_000011.9:g.104898513=	NC_000011.9:g.104898513T>C
CASP1 RefSeqGene	NG_029124.2:g.12345=	NG_029124.2:g.12345A>G
CASP1 transcript variant beta	NM_001223.4:c.944-835=	NM_001223.4:c.944-835A>G
CASP1 transcript variant beta	NM_001223.5:c.944-835=	NM_001223.5:c.944-835A>G
CASP1 transcript variant 6	NM_001257118.1:c.1007-835=	NM_001257118.1:c.1007-835A>G
CASP1 transcript variant 6	NM_001257118.3:c.1007-835=	NM_001257118.3:c.1007-835A>G
CASP1 transcript variant 7	NM_001257119.1:c.944-835=	NM_001257119.1:c.944-835A>G
CASP1 transcript variant 7	NM_001257119.3:c.944-835=	NM_001257119.3:c.944-835A>G
CASP1 transcript variant alpha	NM_033292.3:c.1007-835=	NM_033292.3:c.1007-835A>G
CASP1 transcript variant alpha	NM_033292.4:c.1007-835=	NM_033292.4:c.1007-835A>G
CASP1 transcript variant gamma	NM_033293.3:c.728-835=	NM_033293.3:c.728-835A>G
CASP1 transcript variant gamma	NM_033293.4:c.728-835=	NM_033293.4:c.728-835A>G
CASP1 transcript variant delta	NM_033294.3:c.584-835=	NM_033294.3:c.584-835A>G
CASP1 transcript variant delta	NM_033294.4:c.584-835=	NM_033294.4:c.584-835A>G
CASP1 transcript variant epsilon	NM_033295.3:c.59-835=	NM_033295.3:c.59-835A>G
CASP1 transcript variant epsilon	NM_033295.4:c.59-835=	NM_033295.4:c.59-835A>G
CASP1 transcript variant X1	XM_017018393.2:c.1139-835=	XM_017018393.2:c.1139-835A>G
CASP1 transcript variant X2	XM_017018394.2:c.1139-835=	XM_017018394.2:c.1139-835A>G
CASP1 transcript variant X3	XM_017018395.2:c.1076-835=	XM_017018395.2:c.1076-835A>G
CASP1 transcript variant X5	XM_017018396.2:c.917-835=	XM_017018396.2:c.917-835A>G
CASP1 transcript variant X4	XM_047427675.1:c.959-835=	XM_047427675.1:c.959-835A>G

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#.

68 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss701053	Aug 11, 2000 (83)
2	BCM_SSAHASNP	ss10686154	Jul 11, 2003 (116)
3	SSAHASNP	ss20794487	Apr 05, 2004 (121)
4	PERLEGEN	ss23573806	Sep 20, 2004 (123)
5	HGSV	ss80706070	Dec 15, 2007 (130)
6	BCMHGSC_JDW	ss88765742	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss97508139	Feb 04, 2009 (130)
8	1000GENOMES	ss111008006	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss119951584	Dec 01, 2009 (131)
10	ENSEMBL	ss132800157	Dec 01, 2009 (131)
11	ENSEMBL	ss137869561	Dec 01, 2009 (131)
12	GMI	ss156746108	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss168730783	Jul 04, 2010 (132)
14	BUSHMAN	ss203159733	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss207572390	Jul 04, 2010 (132)
16	1000GENOMES	ss211190984	Jul 14, 2010 (132)
17	1000GENOMES	ss225439596	Jul 14, 2010 (132)
18	1000GENOMES	ss235703253	Jul 15, 2010 (132)
19	1000GENOMES	ss242304661	Jul 15, 2010 (132)
20	BL	ss255367531	May 09, 2011 (134)
21	GMI	ss281156281	May 04, 2012 (137)
22	PJP	ss291131340	May 09, 2011 (134)
23	TISHKOFF	ss562799242	Apr 25, 2013 (138)
24	SSMP	ss658322268	Apr 25, 2013 (138)
25	EVA-GONL	ss988917942	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1078012628	Aug 21, 2014 (142)
27	1000GENOMES	ss1342791913	Aug 21, 2014 (142)
28	DDI	ss1426748786	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1575928088	Apr 01, 2015 (144)
30	EVA_DECODE	ss1598582012	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1627368012	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1670362045	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1806977806	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1932280471	Feb 12, 2016 (147)
35	GENOMED	ss1967448697	Jul 19, 2016 (147)
36	JJLAB	ss2026885145	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2155197222	Dec 20, 2016 (150)
38	HUMAN_LONGEVITY	ss2185340488	Dec 20, 2016 (150)
39	SYSTEMSBIOZJU	ss2627916753	Nov 08, 2017 (151)
40	GRF	ss2699503300	Nov 08, 2017 (151)
41	GNOMAD	ss2903962128	Nov 08, 2017 (151)
42	SWEGEN	ss3008711881	Nov 08, 2017 (151)
43	BIOINF_KMB_FNS_UNIBA	ss3027242431	Nov 08, 2017 (151)
44	CSHL	ss3349776190	Nov 08, 2017 (151)
45	URBANLAB	ss3649696223	Oct 12, 2018 (152)
46	EGCUT_WGS	ss3676034826	Jul 13, 2019 (153)
47	EVA_DECODE	ss3692516411	Jul 13, 2019 (153)
48	ACPOP	ss3738505025	Jul 13, 2019 (153)
49	EVA	ss3749759023	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3815092181	Jul 13, 2019 (153)
51	EVA	ss3832818571	Apr 26, 2020 (154)
52	SGDP_PRJ	ss3877051173	Apr 26, 2020 (154)
53	KRGDB	ss3925495073	Apr 26, 2020 (154)
54	KOGIC	ss3970664256	Apr 26, 2020 (154)
55	TOPMED	ss4898421790	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5203696783	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5288752499	Oct 16, 2022 (156)
58	EVA	ss5401966805	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5483755052	Oct 16, 2022 (156)
60	EVA	ss5510505372	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5585158685	Oct 16, 2022 (156)
62	SANFORD_IMAGENETICS	ss5651988334	Oct 16, 2022 (156)
63	TOMMO_GENOMICS	ss5752088165	Oct 16, 2022 (156)
64	YY_MCH	ss5812742491	Oct 16, 2022 (156)
65	EVA	ss5837170285	Oct 16, 2022 (156)
66	EVA	ss5850134051	Oct 16, 2022 (156)
67	EVA	ss5921481805	Oct 16, 2022 (156)
68	EVA	ss5943312012	Oct 16, 2022 (156)
69	1000Genomes	NC_000011.9 - 104898513	Oct 12, 2018 (152)
70	1000Genomes_30x	NC_000011.10 - 105027786	Oct 16, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 104898513	Oct 12, 2018 (152)
72	Genetic variation in the Estonian population	NC_000011.9 - 104898513	Oct 12, 2018 (152)
73	The Danish reference pan genome	NC_000011.9 - 104898513	Apr 26, 2020 (154)
74	gnomAD - Genomes	NC_000011.10 - 105027786	Apr 26, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000011.9 - 104898513	Apr 26, 2020 (154)
76	HapMap	NC_000011.10 - 105027786	Apr 26, 2020 (154)
77	KOREAN population from KRGDB	NC_000011.9 - 104898513	Apr 26, 2020 (154)
78	Korean Genome Project	NC_000011.10 - 105027786	Apr 26, 2020 (154)
79	Northern Sweden	NC_000011.9 - 104898513	Jul 13, 2019 (153)
80	Qatari	NC_000011.9 - 104898513	Apr 26, 2020 (154)
81	SGDP_PRJ	NC_000011.9 - 104898513	Apr 26, 2020 (154)
82	Siberian	NC_000011.9 - 104898513	Apr 26, 2020 (154)
83	8.3KJPN	NC_000011.9 - 104898513	Apr 26, 2021 (155)
84	14KJPN	NC_000011.10 - 105027786	Oct 16, 2022 (156)
85	TopMed	NC_000011.10 - 105027786	Apr 26, 2021 (155)
86	UK 10K study - Twins	NC_000011.9 - 104898513	Oct 12, 2018 (152)
87	A Vietnamese Genetic Variation Database	NC_000011.9 - 104898513	Jul 13, 2019 (153)
88	ALFA	NC_000011.10 - 105027786	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)
rs58364261	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80706070, ss88765742, ss111008006, ss119951584, ss168730783, ss203159733, ss207572390, ss211190984, ss255367531, ss281156281, ss291131340, ss1598582012	NC_000011.8:104403722:T:C	NC_000011.10:105027785:T:C	(self)
55367734, 30728029, 21773074, 2719029, 13715837, 32672467, 11789890, 14322401, 29068153, 7713576, 61666090, 30728029, 6821454, ss225439596, ss235703253, ss242304661, ss562799242, ss658322268, ss988917942, ss1078012628, ss1342791913, ss1426748786, ss1575928088, ss1627368012, ss1670362045, ss1806977806, ss1932280471, ss1967448697, ss2026885145, ss2155197222, ss2627916753, ss2699503300, ss2903962128, ss3008711881, ss3349776190, ss3676034826, ss3738505025, ss3749759023, ss3832818571, ss3877051173, ss3925495073, ss5203696783, ss5401966805, ss5510505372, ss5651988334, ss5837170285, ss5943312012	NC_000011.9:104898512:T:C	NC_000011.10:105027785:T:C	(self)
72684620, 390689871, 689493, 27042257, 85925269, 113967446, 8988863075, ss2185340488, ss3027242431, ss3649696223, ss3692516411, ss3815092181, ss3970664256, ss4898421790, ss5288752499, ss5483755052, ss5585158685, ss5752088165, ss5812742491, ss5850134051, ss5921481805	NC_000011.10:105027785:T:C	NC_000011.10:105027785:T:C	(self)
ss10686154	NT_033899.5:8442354:T:C	NC_000011.10:105027785:T:C	(self)
ss20794487	NT_033899.6:8442364:T:C	NC_000011.10:105027785:T:C	(self)
ss701053, ss23573806, ss97508139, ss132800157, ss137869561, ss156746108	NT_033899.8:8460928:T:C	NC_000011.10:105027785:T:C	(self)

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

3 citations for rs530537

PMID	Title	Author	Year	Journal
20184726	Caspase-1 genetic variation is not associated with Alzheimer's disease risk.	Vázquez-Higuera JL et al.	2010	BMC medical genetics
24901306	The NOD-like receptor signalling pathway in Helicobacter pylori infection and related gastric cancer: a case-control study and gene expression analyses.	Castaño-Rodríguez N et al.	2014	PloS one
34376808	Ornithine decarboxylase (ODC1) gene variant (rs2302615) is associated with gastric cancer independently of Helicobacter pylori CagA serostatus.	Miller AK et al.	2021	Oncogene

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.
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

rs530537