Name: rs13451
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.

rs13451

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:19186294 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.066961 (17724/264690, TOPMED)
T=0.099955 (23318/233284, ALFA)
T=0.072377 (10148/140210, GnomAD) (+ 25 more)
G=0.00014 (4/28258, 14KJPN)
G=0.00024 (4/16758, 8.3KJPN)
T=0.07748 (1006/12984, GO-ESP)
T=0.0426 (273/6404, 1000G_30x)
T=0.0427 (214/5008, 1000G)
T=0.0882 (395/4480, Estonian)
T=0.1077 (415/3854, ALSPAC)
T=0.1049 (389/3708, TWINSUK)
G=0.0003 (1/2922, KOREAN)
T=0.0494 (103/2084, HGDP_Stanford)
T=0.0638 (80/1254, HapMap)
T=0.0915 (104/1136, Daghestan)
T=0.114 (114/998, GoNL)
T=0.001 (1/792, PRJEB37584)
T=0.042 (26/626, Chileans)
T=0.010 (6/616, Vietnamese)
T=0.137 (82/600, NorthernSweden)
T=0.097 (52/534, MGP)
T=0.122 (37/304, FINRISK)
T=0.051 (11/216, Qatari)
T=0.09 (8/90, Ancient Sardinia)
C=0.44 (22/50, SGDP_PRJ)
T=0.12 (5/40, GENOME_DK)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CSRP3 : Missense Variant
Publications: 2 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	249644	C=0.901488	T=0.098512	0.813695	0.010719	0.175586	9
European	Sub	209100	C=0.893635	T=0.106365	0.799101	0.011832	0.189067	2
African	Sub	13238	C=0.97930	T=0.02070	0.959662	0.001058	0.039281	4
African Others	Sub	468	C=0.996	T=0.004	0.991453	0.0	0.008547	0
African American	Sub	12770	C=0.97870	T=0.02130	0.958496	0.001096	0.040407	4
Asian	Sub	808	C=0.995	T=0.005	0.990099	0.0	0.009901	0
East Asian	Sub	600	C=0.997	T=0.003	0.993333	0.0	0.006667	0
Other Asian	Sub	208	C=0.990	T=0.010	0.980769	0.0	0.019231	0
Latin American 1	Sub	1284	C=0.9299	T=0.0701	0.866044	0.006231	0.127726	0
Latin American 2	Sub	5020	C=0.9466	T=0.0534	0.896016	0.002789	0.101195	0
South Asian	Sub	5056	C=0.9480	T=0.0520	0.899921	0.003956	0.096123	1
Other	Sub	15138	C=0.90402	T=0.09598	0.817677	0.009645	0.172678	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	C=0.933039	T=0.066961
Allele Frequency Aggregator	Total	Global	233284	C=0.900045	T=0.099955
Allele Frequency Aggregator	European	Sub	199012	C=0.893469	T=0.106531
Allele Frequency Aggregator	Other	Sub	13704	C=0.90499	T=0.09501
Allele Frequency Aggregator	African	Sub	8400	C=0.9774	T=0.0226
Allele Frequency Aggregator	South Asian	Sub	5056	C=0.9480	T=0.0520
Allele Frequency Aggregator	Latin American 2	Sub	5020	C=0.9466	T=0.0534
Allele Frequency Aggregator	Latin American 1	Sub	1284	C=0.9299	T=0.0701
Allele Frequency Aggregator	Asian	Sub	808	C=0.995	T=0.005
gnomAD - Genomes	Global	Study-wide	140210	C=0.927623	T=0.072377
gnomAD - Genomes	European	Sub	75918	C=0.89615	T=0.10385
gnomAD - Genomes	African	Sub	42034	C=0.98121	T=0.01879
gnomAD - Genomes	American	Sub	13650	C=0.93128	T=0.06872
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8880	T=0.1120
gnomAD - Genomes	East Asian	Sub	3134	C=0.9984	T=0.0016
gnomAD - Genomes	Other	Sub	2152	C=0.9261	T=0.0739
14KJPN	JAPANESE	Study-wide	28258	C=0.99986	G=0.00014
8.3KJPN	JAPANESE	Study-wide	16758	C=0.99976	G=0.00024
GO Exome Sequencing Project	Global	Study-wide	12984	C=0.92252	T=0.07748
GO Exome Sequencing Project	European American	Sub	8586	C=0.8927	T=0.1073
GO Exome Sequencing Project	African American	Sub	4398	C=0.9807	T=0.0193
1000Genomes_30x	Global	Study-wide	6404	C=0.9574	T=0.0426
1000Genomes_30x	African	Sub	1786	C=0.9961	T=0.0039
1000Genomes_30x	Europe	Sub	1266	C=0.8886	T=0.1114
1000Genomes_30x	South Asian	Sub	1202	C=0.9459	T=0.0541
1000Genomes_30x	East Asian	Sub	1170	C=0.9932	T=0.0068
1000Genomes_30x	American	Sub	980	C=0.947	T=0.053
1000Genomes	Global	Study-wide	5008	C=0.9573	T=0.0427
1000Genomes	African	Sub	1322	C=0.9962	T=0.0038
1000Genomes	East Asian	Sub	1008	C=0.9931	T=0.0069
1000Genomes	Europe	Sub	1006	C=0.8897	T=0.1103
1000Genomes	South Asian	Sub	978	C=0.944	T=0.056
1000Genomes	American	Sub	694	C=0.948	T=0.052
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9118	T=0.0882
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8923	T=0.1077
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8951	T=0.1049
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9997	G=0.0003
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.9506	T=0.0494
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.998	T=0.002
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.957	T=0.043
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.874	T=0.126
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.875	T=0.125
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=1.000	T=0.000
HGDP-CEPH-db Supplement 1	America	Sub	216	C=1.000	T=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=1.00	T=0.00
HapMap	Global	Study-wide	1254	C=0.9362	T=0.0638
HapMap	American	Sub	600	C=0.910	T=0.090
HapMap	African	Sub	394	C=0.990	T=0.010
HapMap	Europe	Sub	176	C=0.875	T=0.125
HapMap	Asian	Sub	84	C=1.00	T=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.9085	T=0.0915
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.908	T=0.092
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.944	T=0.056
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.926	T=0.074
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.870	T=0.130
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.90	T=0.10
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.86	T=0.14
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.886	T=0.114
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.999	T=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.999	T=0.001
Chileans	Chilean	Study-wide	626	C=0.958	T=0.042
A Vietnamese Genetic Variation Database	Global	Study-wide	616	C=0.990	T=0.010
Northern Sweden	ACPOP	Study-wide	600	C=0.863	T=0.137
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.903	T=0.097
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.878	T=0.122
Qatari	Global	Study-wide	216	C=0.949	T=0.051
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	C=0.91	T=0.09
SGDP_PRJ	Global	Study-wide	50	C=0.44	T=0.56
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	T=0.12
Siberian	Global	Study-wide	2	C=0.5	T=0.5

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.19186294C>G
GRCh38.p14 chr 11	NC_000011.10:g.19186294C>T
GRCh37.p13 chr 11	NC_000011.9:g.19207841C>G
GRCh37.p13 chr 11	NC_000011.9:g.19207841C>T
CSRP3 RefSeqGene (LRG_440)	NG_011932.2:g.29280G>C
CSRP3 RefSeqGene (LRG_440)	NG_011932.2:g.29280G>A

Gene: CSRP3, cysteine and glycine rich protein 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CSRP3 transcript variant 2	NM_001369404.1:c.167G>C	R [CGA] > P [CCA]	Coding Sequence Variant
cysteine and glycine-rich protein 3 isoform 2	NP_001356333.1:p.Arg56Pro	R (Arg) > P (Pro)	Missense Variant
CSRP3 transcript variant 2	NM_001369404.1:c.167G>A	R [CGA] > Q [CAA]	Coding Sequence Variant
cysteine and glycine-rich protein 3 isoform 2	NP_001356333.1:p.Arg56Gln	R (Arg) > Q (Gln)	Missense Variant
CSRP3 transcript variant 1	NM_003476.5:c.336G>C	A [GCG] > A [GCC]	Coding Sequence Variant
cysteine and glycine-rich protein 3 isoform 1	NP_003467.1:p.Ala112=	A (Ala) > A (Ala)	Synonymous Variant
CSRP3 transcript variant 1	NM_003476.5:c.336G>A	A [GCG] > A [GCA]	Coding Sequence Variant
cysteine and glycine-rich protein 3 isoform 1	NP_003467.1:p.Ala112=	A (Ala) > A (Ala)	Synonymous 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: 53863 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000037782.16	not specified	Benign
RCV000246047.2	Cardiovascular phenotype	Benign
RCV000371114.4	Hypertrophic cardiomyopathy 12	Benign
RCV000710025.2	Primary dilated cardiomyopathy	Likely-Pathogenic
RCV000860521.7	Dilated cardiomyopathy 1M,Hypertrophic cardiomyopathy 12	Benign
RCV001170411.2	Cardiomyopathy	Benign
RCV001354194.5	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	C=	G	T
GRCh38.p14 chr 11	NC_000011.10:g.19186294=	NC_000011.10:g.19186294C>G	NC_000011.10:g.19186294C>T
GRCh37.p13 chr 11	NC_000011.9:g.19207841=	NC_000011.9:g.19207841C>G	NC_000011.9:g.19207841C>T
CSRP3 RefSeqGene (LRG_440)	NG_011932.2:g.29280=	NG_011932.2:g.29280G>C	NG_011932.2:g.29280G>A
CSRP3 transcript variant 1	NM_003476.5:c.336=	NM_003476.5:c.336G>C	NM_003476.5:c.336G>A
CSRP3 transcript	NM_003476.4:c.336=	NM_003476.4:c.336G>C	NM_003476.4:c.336G>A
CSRP3 transcript variant 2	NM_001369404.1:c.167=	NM_001369404.1:c.167G>C	NM_001369404.1:c.167G>A
CSRP3 transcript variant 2	NM_001127656.1:c.336=	NM_001127656.1:c.336G>C	NM_001127656.1:c.336G>A
cysteine and glycine-rich protein 3 isoform 1	NP_003467.1:p.Ala112=	NP_003467.1:p.Ala112=	NP_003467.1:p.Ala112=
cysteine and glycine-rich protein 3 isoform 2	NP_001356333.1:p.Arg56=	NP_001356333.1:p.Arg56Pro	NP_001356333.1:p.Arg56Gln

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#.

126 SubSNP, 31 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1526619	Oct 05, 2000 (102)
2	TSC-CSHL	ss3094414	Jun 15, 2001 (102)
3	LEE	ss4394859	May 29, 2002 (106)
4	LEE	ss4416902	May 29, 2002 (106)
5	SC_JCM	ss5935146	Feb 20, 2003 (111)
6	CGAP-GAI	ss16245238	Feb 27, 2004 (120)
7	PERLEGEN	ss24339827	Sep 20, 2004 (123)
8	ABI	ss38791311	Mar 13, 2006 (126)
9	ILLUMINA	ss67081997	Nov 30, 2006 (127)
10	ILLUMINA	ss67414807	Nov 30, 2006 (127)
11	ILLUMINA	ss68151754	Dec 12, 2006 (127)
12	PERLEGEN	ss69311531	May 17, 2007 (127)
13	RSG_UW	ss70458571	May 17, 2007 (127)
14	ILLUMINA	ss70606692	May 26, 2008 (130)
15	ILLUMINA	ss71153613	May 17, 2007 (127)
16	ILLUMINA	ss75601394	Dec 07, 2007 (129)
17	AFFY	ss76811397	Dec 07, 2007 (129)
18	KRIBB_YJKIM	ss83350659	Dec 15, 2007 (130)
19	ILLUMINA	ss153378983	Dec 01, 2009 (131)
20	ILLUMINA	ss159258168	Dec 01, 2009 (131)
21	ILLUMINA	ss160339167	Dec 01, 2009 (131)
22	ILLUMINA	ss172429140	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207804905	Jul 04, 2010 (132)
24	1000GENOMES	ss235469374	Jul 15, 2010 (132)
25	ILLUMINA	ss244279052	Jul 04, 2010 (132)
26	NHLBI-ESP	ss342320628	May 09, 2011 (134)
27	ILLUMINA	ss479932493	May 04, 2012 (137)
28	ILLUMINA	ss479940514	May 04, 2012 (137)
29	ILLUMINA	ss480575001	Sep 08, 2015 (146)
30	ILLUMINA	ss484764443	May 04, 2012 (137)
31	1000GENOMES	ss491014407	May 04, 2012 (137)
32	CLINSEQ_SNP	ss491641307	May 04, 2012 (137)
33	ILLUMINA	ss536855654	Sep 08, 2015 (146)
34	SSMP	ss657852927	Apr 25, 2013 (138)
35	ILLUMINA	ss778427645	Aug 21, 2014 (142)
36	ILLUMINA	ss782828943	Aug 21, 2014 (142)
37	ILLUMINA	ss783793769	Aug 21, 2014 (142)
38	ILLUMINA	ss832082393	Apr 01, 2015 (144)
39	ILLUMINA	ss832770403	Aug 21, 2014 (142)
40	ILLUMINA	ss833361233	Aug 21, 2014 (142)
41	ILLUMINA	ss833883087	Aug 21, 2014 (142)
42	EVA-GONL	ss988270021	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1067521228	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1077546556	Aug 21, 2014 (142)
45	1000GENOMES	ss1340348505	Aug 21, 2014 (142)
46	HAMMER_LAB	ss1397601395	Sep 08, 2015 (146)
47	EVA_GENOME_DK	ss1575561745	Apr 01, 2015 (144)
48	EVA_FINRISK	ss1584073614	Apr 01, 2015 (144)
49	EVA_DECODE	ss1597948132	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1626114292	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1669108325	Apr 01, 2015 (144)
52	EVA_EXAC	ss1690292976	Apr 01, 2015 (144)
53	EVA_EXAC	ss1690292977	Apr 01, 2015 (144)
54	EVA_MGP	ss1711285831	Apr 01, 2015 (144)
55	EVA_SVP	ss1713238593	Apr 01, 2015 (144)
56	ILLUMINA	ss1752008276	Sep 08, 2015 (146)
57	EVA_MCP	ss1815615454	Sep 08, 2015 (146)
58	WEILL_CORNELL_DGM	ss1931630996	Feb 12, 2016 (147)
59	JJLAB	ss2026560086	Sep 14, 2016 (149)
60	ILLUMINA	ss2095020581	Dec 20, 2016 (150)
61	USC_VALOUEV	ss2154848279	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2180661551	Dec 20, 2016 (150)
63	ILLUMINA	ss2632809042	Nov 08, 2017 (151)
64	GNOMAD	ss2738853486	Nov 08, 2017 (151)
65	GNOMAD	ss2748578254	Nov 08, 2017 (151)
66	GNOMAD	ss2896981721	Nov 08, 2017 (151)
67	SWEGEN	ss3007691392	Nov 08, 2017 (151)
68	BIOINF_KMB_FNS_UNIBA	ss3027076518	Nov 08, 2017 (151)
69	CSHL	ss3349481524	Nov 08, 2017 (151)
70	ILLUMINA	ss3626613687	Oct 12, 2018 (152)
71	ILLUMINA	ss3630827781	Oct 12, 2018 (152)
72	ILLUMINA	ss3632978073	Oct 12, 2018 (152)
73	ILLUMINA	ss3633676909	Oct 12, 2018 (152)
74	ILLUMINA	ss3634444120	Oct 12, 2018 (152)
75	ILLUMINA	ss3635368743	Oct 12, 2018 (152)
76	ILLUMINA	ss3636128276	Oct 12, 2018 (152)
77	ILLUMINA	ss3637119551	Oct 12, 2018 (152)
78	ILLUMINA	ss3637894814	Oct 12, 2018 (152)
79	ILLUMINA	ss3638962565	Oct 12, 2018 (152)
80	ILLUMINA	ss3639792440	Oct 12, 2018 (152)
81	ILLUMINA	ss3640151459	Oct 12, 2018 (152)
82	ILLUMINA	ss3642894194	Oct 12, 2018 (152)
83	ILLUMINA	ss3643844723	Oct 12, 2018 (152)
84	OMUKHERJEE_ADBS	ss3646423455	Oct 12, 2018 (152)
85	ILLUMINA	ss3651677519	Oct 12, 2018 (152)
86	EGCUT_WGS	ss3675091363	Jul 13, 2019 (153)
87	EVA_DECODE	ss3691327186	Jul 13, 2019 (153)
88	ACPOP	ss3737971206	Jul 13, 2019 (153)
89	ILLUMINA	ss3744745037	Jul 13, 2019 (153)
90	EVA	ss3749014141	Jul 13, 2019 (153)
91	ILLUMINA	ss3772245085	Jul 13, 2019 (153)
92	PACBIO	ss3786884648	Jul 13, 2019 (153)
93	PACBIO	ss3792035532	Jul 13, 2019 (153)
94	PACBIO	ss3796917612	Jul 13, 2019 (153)
95	KHV_HUMAN_GENOMES	ss3814360853	Jul 13, 2019 (153)
96	EVA	ss3824600765	Apr 26, 2020 (154)
97	EVA	ss3825794716	Apr 26, 2020 (154)
98	EVA	ss3832508931	Apr 26, 2020 (154)
99	EVA	ss3836376858	Apr 26, 2020 (154)
100	HGDP	ss3847411635	Apr 26, 2020 (154)
101	SGDP_PRJ	ss3875765291	Apr 26, 2020 (154)
102	KRGDB	ss3924007260	Apr 26, 2020 (154)
103	FSA-LAB	ss3983998435	Apr 26, 2021 (155)
104	EVA	ss3984647255	Apr 26, 2021 (155)
105	EVA	ss3985522131	Apr 26, 2021 (155)
106	EVA	ss3986518796	Apr 26, 2021 (155)
107	TOPMED	ss4877219140	Apr 26, 2021 (155)
108	TOMMO_GENOMICS	ss5200939995	Apr 26, 2021 (155)
109	EVA	ss5236892481	Apr 26, 2021 (155)
110	EVA	ss5237213465	Apr 26, 2021 (155)
111	EVA	ss5237657029	Oct 16, 2022 (156)
112	1000G_HIGH_COVERAGE	ss5286601776	Oct 16, 2022 (156)
113	TRAN_CS_UWATERLOO	ss5314431380	Oct 16, 2022 (156)
114	HUGCELL_USP	ss5481884233	Oct 16, 2022 (156)
115	1000G_HIGH_COVERAGE	ss5581828139	Oct 16, 2022 (156)
116	EVA	ss5623952718	Oct 16, 2022 (156)
117	EVA	ss5624018672	Oct 16, 2022 (156)
118	SANFORD_IMAGENETICS	ss5650750141	Oct 16, 2022 (156)
119	TOMMO_GENOMICS	ss5747766822	Oct 16, 2022 (156)
120	EVA	ss5799836724	Oct 16, 2022 (156)
121	YY_MCH	ss5812178040	Oct 16, 2022 (156)
122	EVA	ss5836341250	Oct 16, 2022 (156)
123	EVA	ss5848320626	Oct 16, 2022 (156)
124	EVA	ss5919062306	Oct 16, 2022 (156)
125	EVA	ss5942060486	Oct 16, 2022 (156)
126	EVA	ss5980664535	Oct 16, 2022 (156)
127	1000Genomes	NC_000011.9 - 19207841	Oct 12, 2018 (152)
128	1000Genomes_30x	NC_000011.10 - 19186294	Oct 16, 2022 (156)
129	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 19207841	Oct 12, 2018 (152)
130	Chileans	NC_000011.9 - 19207841	Apr 26, 2020 (154)
131	Genome-wide autozygosity in Daghestan	NC_000011.8 - 19164417	Apr 26, 2020 (154)
132	Genetic variation in the Estonian population	NC_000011.9 - 19207841	Oct 12, 2018 (152)
133	ExAC Submission ignored due to conflicting rows: Row 543528 (NC_000011.9:19207840:C:C 111460/121402, NC_000011.9:19207840:C:T 9942/121402) Row 543529 (NC_000011.9:19207840:C:C 121399/121402, NC_000011.9:19207840:C:G 3/121402)	-	Oct 12, 2018 (152)
134	ExAC Submission ignored due to conflicting rows: Row 543528 (NC_000011.9:19207840:C:C 111460/121402, NC_000011.9:19207840:C:T 9942/121402) Row 543529 (NC_000011.9:19207840:C:C 121399/121402, NC_000011.9:19207840:C:G 3/121402)	-	Oct 12, 2018 (152)
135	FINRISK	NC_000011.9 - 19207841	Apr 26, 2020 (154)
136	The Danish reference pan genome	NC_000011.9 - 19207841	Apr 26, 2020 (154)
137	gnomAD - Genomes	NC_000011.10 - 19186294	Apr 26, 2021 (155)
138	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8064638 (NC_000011.9:19207840:C:C 251348/251352, NC_000011.9:19207840:C:G 4/251352) Row 8064639 (NC_000011.9:19207840:C:C 231304/251352, NC_000011.9:19207840:C:T 20048/251352)	-	Jul 13, 2019 (153)
139	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8064638 (NC_000011.9:19207840:C:C 251348/251352, NC_000011.9:19207840:C:G 4/251352) Row 8064639 (NC_000011.9:19207840:C:C 231304/251352, NC_000011.9:19207840:C:T 20048/251352)	-	Jul 13, 2019 (153)
140	GO Exome Sequencing Project	NC_000011.9 - 19207841	Oct 12, 2018 (152)
141	Genome of the Netherlands Release 5	NC_000011.9 - 19207841	Apr 26, 2020 (154)
142	HGDP-CEPH-db Supplement 1	NC_000011.8 - 19164417	Apr 26, 2020 (154)
143	HapMap	NC_000011.10 - 19186294	Apr 26, 2020 (154)
144	KOREAN population from KRGDB	NC_000011.9 - 19207841	Apr 26, 2020 (154)
145	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 19207841	Apr 26, 2020 (154)
146	Northern Sweden	NC_000011.9 - 19207841	Jul 13, 2019 (153)
147	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 19207841	Apr 26, 2021 (155)
148	CNV burdens in cranial meningiomas	NC_000011.9 - 19207841	Apr 26, 2021 (155)
149	Qatari	NC_000011.9 - 19207841	Apr 26, 2020 (154)
150	SGDP_PRJ	NC_000011.9 - 19207841	Apr 26, 2020 (154)
151	Siberian	NC_000011.9 - 19207841	Apr 26, 2020 (154)
152	8.3KJPN	NC_000011.9 - 19207841	Apr 26, 2021 (155)
153	14KJPN	NC_000011.10 - 19186294	Oct 16, 2022 (156)
154	TopMed	NC_000011.10 - 19186294	Apr 26, 2021 (155)
155	UK 10K study - Twins	NC_000011.9 - 19207841	Oct 12, 2018 (152)
156	A Vietnamese Genetic Variation Database	NC_000011.9 - 19207841	Jul 13, 2019 (153)
157	ALFA	NC_000011.10 - 19186294	Apr 26, 2021 (155)
158	ClinVar	RCV000037782.16	Oct 16, 2022 (156)
159	ClinVar	RCV000246047.2	Oct 16, 2022 (156)
160	ClinVar	RCV000371114.4	Oct 16, 2022 (156)
161	ClinVar	RCV000710025.2	Oct 16, 2022 (156)
162	ClinVar	RCV000860521.7	Oct 16, 2022 (156)
163	ClinVar	RCV001170411.2	Oct 16, 2022 (156)
164	ClinVar	RCV001354194.5	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)
rs1051242	Jan 04, 2002 (102)
rs3168303	Jul 03, 2002 (106)
rs17296670	May 26, 2008 (130)
rs17357716	May 26, 2008 (130)
rs17412419	Oct 08, 2004 (123)
rs60808260	May 26, 2008 (130)
rs386528807	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
31184654, 58909302, ss1690292977, ss2738853486, ss3924007260, ss5200939995	NC_000011.9:19207840:C:G	NC_000011.10:19186293:C:G	(self)
81603926, ss5747766822	NC_000011.10:19186293:C:G	NC_000011.10:19186293:C:G
72689, 89527, ss207804905, ss479932493, ss491641307, ss1397601395, ss1597948132, ss1713238593, ss3638962565, ss3639792440, ss3642894194, ss3643844723, ss3847411635	NC_000011.8:19164416:C:T	NC_000011.10:19186293:C:T	(self)
52839492, 29352889, 70166, 20829611, 70075, 2467988, 1058376, 13087454, 401591, 11256071, 748058, 196730, 13672926, 27782271, 7364633, 29352889, 6515770, ss235469374, ss342320628, ss479940514, ss480575001, ss484764443, ss491014407, ss536855654, ss657852927, ss778427645, ss782828943, ss783793769, ss832082393, ss832770403, ss833361233, ss833883087, ss988270021, ss1067521228, ss1077546556, ss1340348505, ss1575561745, ss1584073614, ss1626114292, ss1669108325, ss1690292976, ss1711285831, ss1752008276, ss1815615454, ss1931630996, ss2026560086, ss2095020581, ss2154848279, ss2632809042, ss2738853486, ss2748578254, ss2896981721, ss3007691392, ss3349481524, ss3626613687, ss3630827781, ss3632978073, ss3633676909, ss3634444120, ss3635368743, ss3636128276, ss3637119551, ss3637894814, ss3640151459, ss3646423455, ss3651677519, ss3675091363, ss3737971206, ss3744745037, ss3749014141, ss3772245085, ss3786884648, ss3792035532, ss3796917612, ss3824600765, ss3825794716, ss3832508931, ss3836376858, ss3875765291, ss3983998435, ss3984647255, ss3985522131, ss3986518796, ss5623952718, ss5624018672, ss5650750141, ss5799836724, ss5836341250, ss5848320626, ss5942060486, ss5980664535	NC_000011.9:19207840:C:T	NC_000011.10:19186293:C:T	(self)
RCV000037782.16, RCV000246047.2, RCV000371114.4, RCV000710025.2, RCV000860521.7, RCV001170411.2, RCV001354194.5, 69354074, 373015816, 562266, 92764796, 8123227323, ss2180661551, ss3027076518, ss3691327186, ss3814360853, ss4877219140, ss5236892481, ss5237213465, ss5237657029, ss5286601776, ss5314431380, ss5481884233, ss5581828139, ss5812178040, ss5919062306	NC_000011.10:19186293:C:T	NC_000011.10:19186293:C:T	(self)
ss1526619, ss3094414, ss4394859, ss4416902, ss5935146, ss16245238, ss24339827, ss38791311, ss67081997, ss67414807, ss68151754, ss69311531, ss70458571, ss70606692, ss71153613, ss75601394, ss76811397, ss83350659, ss153378983, ss159258168, ss160339167, ss172429140, ss244279052	NT_009237.18:19147840:C:T	NC_000011.10:19186293:C:T	(self)

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

2 citations for rs13451

PMID	Title	Author	Year	Journal
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine

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

rs13451