Name: rs10735005
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.

rs10735005

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:1886237 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.113622 (42367/372876, ALFA)
T=0.081068 (21458/264690, TOPMED)
T=0.083138 (11647/140092, GnomAD) (+ 24 more)
T=0.05620 (4423/78700, PAGE_STUDY)
T=0.00004 (1/28258, 14KJPN)
T=0.00000 (0/16760, 8.3KJPN)
T=0.08353 (1051/12582, GO-ESP)
T=0.0625 (400/6404, 1000G_30x)
T=0.0629 (315/5008, 1000G)
T=0.0940 (421/4480, Estonian)
T=0.1134 (437/3854, ALSPAC)
T=0.1057 (392/3708, TWINSUK)
T=0.0007 (2/2930, KOREAN)
T=0.0744 (155/2084, HGDP_Stanford)
T=0.0000 (0/1832, Korea1K)
T=0.0614 (83/1352, HapMap)
T=0.1268 (144/1136, Daghestan)
T=0.122 (122/998, GoNL)
T=0.002 (1/616, Vietnamese)
T=0.060 (36/600, NorthernSweden)
T=0.032 (18/554, SGDP_PRJ)
T=0.109 (58/534, MGP)
T=0.112 (34/304, FINRISK)
T=0.074 (16/216, Qatari)
T=0.18 (16/88, Ancient Sardinia)
T=0.11 (6/56, Siberian)
T=0.07 (3/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CACNA2D4 : Missense Variant
LOC124902858 : Intron Variant
Publications: 1 citation
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	389376	T=0.112192	C=0.887808
European	Sub	330604	T=0.119581	C=0.880419
African	Sub	13926	T=0.02463	C=0.97537
African Others	Sub	510	T=0.004	C=0.996
African American	Sub	13416	T=0.02542	C=0.97458
Asian	Sub	6982	T=0.0011	C=0.9989
East Asian	Sub	5014	T=0.0014	C=0.9986
Other Asian	Sub	1968	T=0.0005	C=0.9995
Latin American 1	Sub	1488	T=0.0853	C=0.9147
Latin American 2	Sub	7240	T=0.1048	C=0.8952
South Asian	Sub	5224	T=0.0917	C=0.9083
Other	Sub	23912	T=0.10183	C=0.89817

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	372876	T=0.113622	C=0.886378
Allele Frequency Aggregator	European	Sub	320394	T=0.120090	C=0.879910
Allele Frequency Aggregator	Other	Sub	22460	T=0.10160	C=0.89840
Allele Frequency Aggregator	African	Sub	9088	T=0.0260	C=0.9740
Allele Frequency Aggregator	Latin American 2	Sub	7240	T=0.1048	C=0.8952
Allele Frequency Aggregator	Asian	Sub	6982	T=0.0011	C=0.9989
Allele Frequency Aggregator	South Asian	Sub	5224	T=0.0917	C=0.9083
Allele Frequency Aggregator	Latin American 1	Sub	1488	T=0.0853	C=0.9147
TopMed	Global	Study-wide	264690	T=0.081068	C=0.918932
gnomAD - Genomes	Global	Study-wide	140092	T=0.083138	C=0.916862
gnomAD - Genomes	European	Sub	75862	T=0.11248	C=0.88752
gnomAD - Genomes	African	Sub	41974	T=0.02256	C=0.97744
gnomAD - Genomes	American	Sub	13654	T=0.11000	C=0.89000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.1421	C=0.8579
gnomAD - Genomes	East Asian	Sub	3130	T=0.0006	C=0.9994
gnomAD - Genomes	Other	Sub	2150	T=0.0888	C=0.9112
The PAGE Study	Global	Study-wide	78700	T=0.05620	C=0.94380
The PAGE Study	AfricanAmerican	Sub	32516	T=0.02383	C=0.97617
The PAGE Study	Mexican	Sub	10808	T=0.10936	C=0.89064
The PAGE Study	Asian	Sub	8318	T=0.0007	C=0.9993
The PAGE Study	PuertoRican	Sub	7918	T=0.1076	C=0.8924
The PAGE Study	NativeHawaiian	Sub	4534	T=0.0360	C=0.9640
The PAGE Study	Cuban	Sub	4230	T=0.1220	C=0.8780
The PAGE Study	Dominican	Sub	3828	T=0.0786	C=0.9214
The PAGE Study	CentralAmerican	Sub	2450	T=0.0955	C=0.9045
The PAGE Study	SouthAmerican	Sub	1982	T=0.1039	C=0.8961
The PAGE Study	NativeAmerican	Sub	1260	T=0.0937	C=0.9063
The PAGE Study	SouthAsian	Sub	856	T=0.082	C=0.918
14KJPN	JAPANESE	Study-wide	28258	T=0.00004	C=0.99996
8.3KJPN	JAPANESE	Study-wide	16760	T=0.00000	C=1.00000
GO Exome Sequencing Project	Global	Study-wide	12582	T=0.08353	C=0.91647
GO Exome Sequencing Project	European American	Sub	8416	T=0.1137	C=0.8863
GO Exome Sequencing Project	African American	Sub	4166	T=0.0226	C=0.9774
1000Genomes_30x	Global	Study-wide	6404	T=0.0625	C=0.9375
1000Genomes_30x	African	Sub	1786	T=0.0050	C=0.9950
1000Genomes_30x	Europe	Sub	1266	T=0.1532	C=0.8468
1000Genomes_30x	South Asian	Sub	1202	T=0.0732	C=0.9268
1000Genomes_30x	East Asian	Sub	1170	T=0.0009	C=0.9991
1000Genomes_30x	American	Sub	980	T=0.110	C=0.890
1000Genomes	Global	Study-wide	5008	T=0.0629	C=0.9371
1000Genomes	African	Sub	1322	T=0.0053	C=0.9947
1000Genomes	East Asian	Sub	1008	T=0.0010	C=0.9990
1000Genomes	Europe	Sub	1006	T=0.1491	C=0.8509
1000Genomes	South Asian	Sub	978	T=0.079	C=0.921
1000Genomes	American	Sub	694	T=0.115	C=0.885
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0940	C=0.9060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.1134	C=0.8866
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.1057	C=0.8943
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0007	C=0.9993
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.0744	C=0.9256
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.002	C=0.998
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.114	C=0.886
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.131	C=0.869
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.109	C=0.891
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.000	C=1.000
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.120	C=0.880
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.00	C=1.00
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	C=1.0000
HapMap	Global	Study-wide	1352	T=0.0614	C=0.9386
HapMap	American	Sub	600	T=0.083	C=0.917
HapMap	African	Sub	406	T=0.002	C=0.998
HapMap	Europe	Sub	176	T=0.182	C=0.818
HapMap	Asian	Sub	170	T=0.000	C=1.000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.1268	C=0.8732
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.148	C=0.852
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.111	C=0.889
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.057	C=0.943
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.139	C=0.861
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.07	C=0.93
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.17	C=0.83
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.122	C=0.878
A Vietnamese Genetic Variation Database	Global	Study-wide	616	T=0.002	C=0.998
Northern Sweden	ACPOP	Study-wide	600	T=0.060	C=0.940
SGDP_PRJ	Global	Study-wide	554	T=0.032	C=0.968
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.109	C=0.891
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.112	C=0.888
Qatari	Global	Study-wide	216	T=0.074	C=0.926
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	T=0.18	C=0.82
Siberian	Global	Study-wide	56	T=0.11	C=0.89
The Danish reference pan genome	Danish	Study-wide	40	T=0.07	C=0.93

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 12	NC_000012.12:g.1886237T>C
GRCh38.p14 chr 12	NC_000012.12:g.1886237T>G
GRCh37.p13 chr 12	NC_000012.11:g.1995403T>C
GRCh37.p13 chr 12	NC_000012.11:g.1995403T>G
CACNA2D4 RefSeqGene	NG_012663.2:g.37468A>G
CACNA2D4 RefSeqGene	NG_012663.2:g.37468A>C
GRCh38.p14 chr 12 fix patch HG1815_PATCH	NW_018654718.1:g.228381T>C
GRCh38.p14 chr 12 fix patch HG1815_PATCH	NW_018654718.1:g.228381T>G

Gene: CACNA2D4, calcium voltage-gated channel auxiliary subunit alpha2delta 4 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNA2D4 transcript	NM_172364.5:c.979A>G	I [ATT] > V [GTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4	NP_758952.4:p.Ile327Val	I (Ile) > V (Val)	Missense Variant
CACNA2D4 transcript	NM_172364.5:c.979A>C	I [ATT] > L [CTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4	NP_758952.4:p.Ile327Leu	I (Ile) > L (Leu)	Missense Variant
CACNA2D4 transcript variant X1	XM_011521041.3:c.979A>G	I [ATT] > V [GTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X1	XP_011519343.1:p.Ile327Val	I (Ile) > V (Val)	Missense Variant
CACNA2D4 transcript variant X1	XM_011521041.3:c.979A>C	I [ATT] > L [CTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X1	XP_011519343.1:p.Ile327Leu	I (Ile) > L (Leu)	Missense Variant
CACNA2D4 transcript variant X2	XM_047429897.1:c.979A>G	I [ATT] > V [GTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X2	XP_047285853.1:p.Ile327Val	I (Ile) > V (Val)	Missense Variant
CACNA2D4 transcript variant X2	XM_047429897.1:c.979A>C	I [ATT] > L [CTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X2	XP_047285853.1:p.Ile327Leu	I (Ile) > L (Leu)	Missense Variant
CACNA2D4 transcript variant X3	XM_047429898.1:c.979A>G	I [ATT] > V [GTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X3	XP_047285854.1:p.Ile327Val	I (Ile) > V (Val)	Missense Variant
CACNA2D4 transcript variant X3	XM_047429898.1:c.979A>C	I [ATT] > L [CTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X3	XP_047285854.1:p.Ile327Leu	I (Ile) > L (Leu)	Missense Variant
CACNA2D4 transcript variant X4	XM_047429899.1:c.979A>G	I [ATT] > V [GTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X4	XP_047285855.1:p.Ile327Val	I (Ile) > V (Val)	Missense Variant
CACNA2D4 transcript variant X4	XM_047429899.1:c.979A>C	I [ATT] > L [CTT]	Coding Sequence Variant
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X4	XP_047285855.1:p.Ile327Leu	I (Ile) > L (Leu)	Missense Variant

Gene: LOC124902858, uncharacterized LOC124902858 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124902858 transcript	XR_007063158.1: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.

Allele: C (allele ID: 254464 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000244285.1	not specified	Benign
RCV000365597.3	Cone dystrophy 3	Benign
RCV001094108.4	Retinal cone dystrophy 4	Benign
RCV001522851.4	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	T=	C	G
GRCh38.p14 chr 12	NC_000012.12:g.1886237=	NC_000012.12:g.1886237T>C	NC_000012.12:g.1886237T>G
GRCh37.p13 chr 12	NC_000012.11:g.1995403=	NC_000012.11:g.1995403T>C	NC_000012.11:g.1995403T>G
CACNA2D4 RefSeqGene	NG_012663.2:g.37468=	NG_012663.2:g.37468A>G	NG_012663.2:g.37468A>C
CACNA2D4 transcript	NM_172364.5:c.979=	NM_172364.5:c.979A>G	NM_172364.5:c.979A>C
CACNA2D4 transcript	NM_172364.4:c.979=	NM_172364.4:c.979A>G	NM_172364.4:c.979A>C
GRCh38.p14 chr 12 fix patch HG1815_PATCH	NW_018654718.1:g.228381=	NW_018654718.1:g.228381T>C	NW_018654718.1:g.228381T>G
CACNA2D4 transcript variant X1	XM_011521041.3:c.979=	XM_011521041.3:c.979A>G	XM_011521041.3:c.979A>C
CACNA2D4 transcript variant X1	XM_011521041.2:c.979=	XM_011521041.2:c.979A>G	XM_011521041.2:c.979A>C
CACNA2D4 transcript variant X1	XM_011521041.1:c.979=	XM_011521041.1:c.979A>G	XM_011521041.1:c.979A>C
CACNA2D4 transcript variant 3	NM_001005766.1:c.979G>A	NM_001005766.1:c.979=	NM_001005766.1:c.979G>C
CACNA2D4 transcript variant 2	NM_001005737.1:c.979G>A	NM_001005737.1:c.979=	NM_001005737.1:c.979G>C
CACNA2D4 transcript variant X2	XM_047429897.1:c.979=	XM_047429897.1:c.979A>G	XM_047429897.1:c.979A>C
CACNA2D4 transcript variant X3	XM_047429898.1:c.979=	XM_047429898.1:c.979A>G	XM_047429898.1:c.979A>C
CACNA2D4 transcript variant X4	XM_047429899.1:c.979=	XM_047429899.1:c.979A>G	XM_047429899.1:c.979A>C
voltage-dependent calcium channel subunit alpha-2/delta-4	NP_758952.4:p.Ile327=	NP_758952.4:p.Ile327Val	NP_758952.4:p.Ile327Leu
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X1	XP_011519343.1:p.Ile327=	XP_011519343.1:p.Ile327Val	XP_011519343.1:p.Ile327Leu
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X2	XP_047285853.1:p.Ile327=	XP_047285853.1:p.Ile327Val	XP_047285853.1:p.Ile327Leu
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X3	XP_047285854.1:p.Ile327=	XP_047285854.1:p.Ile327Val	XP_047285854.1:p.Ile327Leu
voltage-dependent calcium channel subunit alpha-2/delta-4 isoform X4	XP_047285855.1:p.Ile327=	XP_047285855.1:p.Ile327Val	XP_047285855.1:p.Ile327Leu

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#.

194 SubSNP, 33 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15927630	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss16570024	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss17456342	Feb 27, 2004 (120)
4	SC_SNP	ss18512175	Feb 27, 2004 (120)
5	SC_SNP	ss18749638	Feb 27, 2004 (120)
6	SC_SNP	ss18967778	Feb 27, 2004 (120)
7	SSAHASNP	ss20980992	Apr 05, 2004 (121)
8	PERLEGEN	ss24611009	Sep 20, 2004 (123)
9	ILLUMINA	ss66539837	Dec 02, 2006 (127)
10	ILLUMINA	ss66897011	Dec 02, 2006 (127)
11	ILLUMINA	ss67007699	Dec 02, 2006 (127)
12	PERLEGEN	ss69098228	May 18, 2007 (127)
13	ILLUMINA	ss70377390	May 18, 2007 (127)
14	ILLUMINA	ss70493067	May 27, 2008 (130)
15	ILLUMINA	ss71017815	May 18, 2007 (127)
16	AFFY	ss74810304	Aug 16, 2007 (128)
17	ILLUMINA	ss75614161	Dec 06, 2007 (129)
18	HGSV	ss77600422	Dec 06, 2007 (129)
19	HGSV	ss80175874	Dec 16, 2007 (130)
20	KRIBB_YJKIM	ss84983857	Dec 16, 2007 (130)
21	BCMHGSC_JDW	ss88912580	Mar 24, 2008 (129)
22	HUMANGENOME_JCVI	ss97199318	Feb 06, 2009 (130)
23	BGI	ss106781897	Feb 06, 2009 (130)
24	1000GENOMES	ss111369386	Jan 25, 2009 (130)
25	1000GENOMES	ss115436215	Jan 25, 2009 (130)
26	ILLUMINA-UK	ss118513694	Feb 14, 2009 (130)
27	ILLUMINA	ss121375003	Dec 01, 2009 (131)
28	ENSEMBL	ss132957433	Dec 01, 2009 (131)
29	ENSEMBL	ss137515695	Dec 01, 2009 (131)
30	ILLUMINA	ss152799704	Dec 01, 2009 (131)
31	GMI	ss157012991	Dec 01, 2009 (131)
32	ILLUMINA	ss159137931	Dec 01, 2009 (131)
33	ILLUMINA	ss159912700	Dec 01, 2009 (131)
34	COMPLETE_GENOMICS	ss167637797	Jul 04, 2010 (132)
35	COMPLETE_GENOMICS	ss168855054	Jul 04, 2010 (132)
36	ILLUMINA	ss169579507	Jul 04, 2010 (132)
37	COMPLETE_GENOMICS	ss170244558	Jul 04, 2010 (132)
38	ILLUMINA	ss170416859	Jul 04, 2010 (132)
39	BUSHMAN	ss203455253	Jul 04, 2010 (132)
40	BCM-HGSC-SUB	ss208002834	Jul 04, 2010 (132)
41	1000GENOMES	ss225568194	Jul 14, 2010 (132)
42	1000GENOMES	ss235795677	Jul 15, 2010 (132)
43	1000GENOMES	ss242379667	Jul 15, 2010 (132)
44	BL	ss254815893	May 09, 2011 (134)
45	GMI	ss281244353	May 04, 2012 (137)
46	GMI	ss286491959	Apr 25, 2013 (138)
47	PJP	ss291237905	May 09, 2011 (134)
48	ILLUMINA	ss479324514	May 04, 2012 (137)
49	ILLUMINA	ss479327661	May 04, 2012 (137)
50	ILLUMINA	ss479716663	Sep 08, 2015 (146)
51	ILLUMINA	ss484462531	May 04, 2012 (137)
52	1000GENOMES	ss491034196	May 04, 2012 (137)
53	EXOME_CHIP	ss491462477	May 04, 2012 (137)
54	CLINSEQ_SNP	ss491658011	May 04, 2012 (137)
55	ILLUMINA	ss536626219	Sep 08, 2015 (146)
56	TISHKOFF	ss562949442	Apr 25, 2013 (138)
57	SSMP	ss658474714	Apr 25, 2013 (138)
58	NHLBI-ESP	ss713068979	Apr 25, 2013 (138)
59	ILLUMINA	ss778362127	Aug 21, 2014 (142)
60	ILLUMINA	ss780906697	Aug 21, 2014 (142)
61	ILLUMINA	ss782677820	Aug 21, 2014 (142)
62	ILLUMINA	ss783594073	Aug 21, 2014 (142)
63	ILLUMINA	ss783646382	Aug 21, 2014 (142)
64	ILLUMINA	ss825347001	Jul 19, 2016 (147)
65	ILLUMINA	ss831928570	Apr 01, 2015 (144)
66	ILLUMINA	ss832650589	Aug 21, 2014 (142)
67	ILLUMINA	ss833241278	Aug 21, 2014 (142)
68	ILLUMINA	ss833816912	Aug 21, 2014 (142)
69	JMKIDD_LAB	ss974482091	Aug 21, 2014 (142)
70	EVA-GONL	ss989164890	Aug 21, 2014 (142)
71	JMKIDD_LAB	ss1067530428	Aug 21, 2014 (142)
72	JMKIDD_LAB	ss1078195504	Aug 21, 2014 (142)
73	1000GENOMES	ss1343727932	Aug 21, 2014 (142)
74	HAMMER_LAB	ss1397623459	Sep 08, 2015 (146)
75	DDI	ss1426820018	Apr 01, 2015 (144)
76	EVA_GENOME_DK	ss1576070561	Apr 01, 2015 (144)
77	EVA_FINRISK	ss1584079535	Apr 01, 2015 (144)
78	EVA_DECODE	ss1598836144	Apr 01, 2015 (144)
79	EVA_UK10K_ALSPAC	ss1627875840	Apr 01, 2015 (144)
80	EVA_UK10K_TWINSUK	ss1670869873	Apr 01, 2015 (144)
81	EVA_EXAC	ss1690736592	Apr 01, 2015 (144)
82	EVA_EXAC	ss1690736593	Apr 01, 2015 (144)
83	EVA_MGP	ss1711316333	Apr 01, 2015 (144)
84	EVA_SVP	ss1713301023	Apr 01, 2015 (144)
85	ILLUMINA	ss1752059192	Sep 08, 2015 (146)
86	ILLUMINA	ss1752059193	Sep 08, 2015 (146)
87	HAMMER_LAB	ss1807085943	Sep 08, 2015 (146)
88	ILLUMINA	ss1917869315	Feb 12, 2016 (147)
89	WEILL_CORNELL_DGM	ss1932525235	Feb 12, 2016 (147)
90	ILLUMINA	ss1946328779	Feb 12, 2016 (147)
91	ILLUMINA	ss1946328780	Feb 12, 2016 (147)
92	ILLUMINA	ss1959405613	Feb 12, 2016 (147)
93	ILLUMINA	ss1959405614	Feb 12, 2016 (147)
94	GENOMED	ss1967505948	Jul 19, 2016 (147)
95	JJLAB	ss2027009774	Sep 14, 2016 (149)
96	USC_VALOUEV	ss2155328272	Dec 20, 2016 (150)
97	HUMAN_LONGEVITY	ss2187260766	Dec 20, 2016 (150)
98	SYSTEMSBIOZJU	ss2627981397	Nov 08, 2017 (151)
99	ILLUMINA	ss2632914824	Nov 08, 2017 (151)
100	GRF	ss2699647171	Nov 08, 2017 (151)
101	ILLUMINA	ss2710751592	Nov 08, 2017 (151)
102	GNOMAD	ss2739549077	Nov 08, 2017 (151)
103	GNOMAD	ss2748788126	Nov 08, 2017 (151)
104	GNOMAD	ss2906571464	Nov 08, 2017 (151)
105	AFFY	ss2984964602	Nov 08, 2017 (151)
106	SWEGEN	ss3009087992	Nov 08, 2017 (151)
107	ILLUMINA	ss3021398004	Nov 08, 2017 (151)
108	ILLUMINA	ss3021398005	Nov 08, 2017 (151)
109	BIOINF_KMB_FNS_UNIBA	ss3027307621	Nov 08, 2017 (151)
110	CSHL	ss3349886781	Nov 08, 2017 (151)
111	ILLUMINA	ss3625614048	Oct 12, 2018 (152)
112	ILLUMINA	ss3626797822	Oct 12, 2018 (152)
113	ILLUMINA	ss3626797823	Oct 12, 2018 (152)
114	ILLUMINA	ss3630927090	Oct 12, 2018 (152)
115	ILLUMINA	ss3633007307	Oct 12, 2018 (152)
116	ILLUMINA	ss3633707658	Oct 12, 2018 (152)
117	ILLUMINA	ss3634486477	Oct 12, 2018 (152)
118	ILLUMINA	ss3634486478	Oct 12, 2018 (152)
119	ILLUMINA	ss3635398766	Oct 12, 2018 (152)
120	ILLUMINA	ss3636170700	Oct 12, 2018 (152)
121	ILLUMINA	ss3637149709	Oct 12, 2018 (152)
122	ILLUMINA	ss3637942405	Oct 12, 2018 (152)
123	ILLUMINA	ss3638985136	Oct 12, 2018 (152)
124	ILLUMINA	ss3639494151	Oct 12, 2018 (152)
125	ILLUMINA	ss3640193812	Oct 12, 2018 (152)
126	ILLUMINA	ss3640193813	Oct 12, 2018 (152)
127	ILLUMINA	ss3641024053	Oct 12, 2018 (152)
128	ILLUMINA	ss3641318645	Oct 12, 2018 (152)
129	ILLUMINA	ss3642937838	Oct 12, 2018 (152)
130	ILLUMINA	ss3644581713	Oct 12, 2018 (152)
131	ILLUMINA	ss3644581714	Oct 12, 2018 (152)
132	OMUKHERJEE_ADBS	ss3646435923	Oct 12, 2018 (152)
133	URBANLAB	ss3649747027	Oct 12, 2018 (152)
134	ILLUMINA	ss3651768870	Oct 12, 2018 (152)
135	ILLUMINA	ss3651768871	Oct 12, 2018 (152)
136	ILLUMINA	ss3653736831	Oct 12, 2018 (152)
137	EGCUT_WGS	ss3676418929	Jul 13, 2019 (153)
138	EVA_DECODE	ss3692975111	Jul 13, 2019 (153)
139	ILLUMINA	ss3725296098	Jul 13, 2019 (153)
140	ACPOP	ss3738708036	Jul 13, 2019 (153)
141	ILLUMINA	ss3744093854	Jul 13, 2019 (153)
142	ILLUMINA	ss3744390564	Jul 13, 2019 (153)
143	ILLUMINA	ss3744787202	Jul 13, 2019 (153)
144	ILLUMINA	ss3744787203	Jul 13, 2019 (153)
145	EVA	ss3750053813	Jul 13, 2019 (153)
146	PAGE_CC	ss3771668607	Jul 13, 2019 (153)
147	ILLUMINA	ss3772286825	Jul 13, 2019 (153)
148	ILLUMINA	ss3772286826	Jul 13, 2019 (153)
149	PACBIO	ss3787120630	Jul 13, 2019 (153)
150	PACBIO	ss3792237547	Jul 13, 2019 (153)
151	PACBIO	ss3797120384	Jul 13, 2019 (153)
152	KHV_HUMAN_GENOMES	ss3815371666	Jul 13, 2019 (153)
153	EVA	ss3824693602	Apr 26, 2020 (154)
154	EVA	ss3825814359	Apr 26, 2020 (154)
155	EVA	ss3832937086	Apr 26, 2020 (154)
156	EVA	ss3840030893	Apr 26, 2020 (154)
157	EVA	ss3845513245	Apr 26, 2020 (154)
158	HGDP	ss3847438693	Apr 26, 2020 (154)
159	SGDP_PRJ	ss3877538240	Apr 26, 2020 (154)
160	KRGDB	ss3926032351	Apr 26, 2020 (154)
161	KOGIC	ss3971135656	Apr 26, 2020 (154)
162	FSA-LAB	ss3984018638	Apr 26, 2021 (155)
163	EVA	ss3984660966	Apr 26, 2021 (155)
164	EVA	ss3984660967	Apr 26, 2021 (155)
165	EVA	ss3985570601	Apr 26, 2021 (155)
166	EVA	ss3986057699	Apr 26, 2021 (155)
167	EVA	ss3986554275	Apr 26, 2021 (155)
168	TOPMED	ss4906410528	Apr 26, 2021 (155)
169	TOMMO_GENOMICS	ss5204746222	Apr 26, 2021 (155)
170	EVA	ss5236901757	Apr 26, 2021 (155)
171	EVA	ss5237217824	Apr 26, 2021 (155)
172	EVA	ss5237659135	Oct 18, 2022 (156)
173	1000G_HIGH_COVERAGE	ss5289563247	Oct 18, 2022 (156)
174	TRAN_CS_UWATERLOO	ss5314434193	Oct 18, 2022 (156)
175	EVA	ss5315593974	Oct 18, 2022 (156)
176	HUGCELL_USP	ss5484483012	Oct 18, 2022 (156)
177	1000G_HIGH_COVERAGE	ss5586372534	Oct 18, 2022 (156)
178	EVA	ss5623955988	Oct 18, 2022 (156)
179	EVA	ss5624027939	Oct 18, 2022 (156)
180	SANFORD_IMAGENETICS	ss5652450036	Oct 18, 2022 (156)
181	TOMMO_GENOMICS	ss5753443880	Oct 18, 2022 (156)
182	EVA	ss5799861269	Oct 18, 2022 (156)
183	EVA	ss5800064368	Oct 18, 2022 (156)
184	EVA	ss5800173662	Oct 18, 2022 (156)
185	YY_MCH	ss5812942630	Oct 18, 2022 (156)
186	EVA	ss5837491285	Oct 18, 2022 (156)
187	EVA	ss5847656795	Oct 18, 2022 (156)
188	EVA	ss5848342697	Oct 18, 2022 (156)
189	EVA	ss5850231000	Oct 18, 2022 (156)
190	EVA	ss5903015092	Oct 18, 2022 (156)
191	EVA	ss5936551373	Oct 18, 2022 (156)
192	EVA	ss5943798040	Oct 18, 2022 (156)
193	EVA	ss5980715208	Oct 18, 2022 (156)
194	EVA	ss5981272644	Oct 18, 2022 (156)
195	1000Genomes	NC_000012.11 - 1995403	Oct 12, 2018 (152)
196	1000Genomes_30x	NC_000012.12 - 1886237	Oct 18, 2022 (156)
197	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 1995403	Oct 12, 2018 (152)
198	Genome-wide autozygosity in Daghestan	NC_000012.10 - 1865664	Apr 26, 2020 (154)
199	Genetic variation in the Estonian population	NC_000012.11 - 1995403	Oct 12, 2018 (152)
200	ExAC Submission ignored due to conflicting rows: Row 1019976 (NC_000012.11:1995402:T:T 11301/120758, NC_000012.11:1995402:T:C 109457/120758) Row 1019977 (NC_000012.11:1995402:T:T 120757/120758, NC_000012.11:1995402:T:G 1/120758)	-	Oct 12, 2018 (152)
201	ExAC Submission ignored due to conflicting rows: Row 1019976 (NC_000012.11:1995402:T:T 11301/120758, NC_000012.11:1995402:T:C 109457/120758) Row 1019977 (NC_000012.11:1995402:T:T 120757/120758, NC_000012.11:1995402:T:G 1/120758)	-	Oct 12, 2018 (152)
202	FINRISK	NC_000012.11 - 1995403	Apr 26, 2020 (154)
203	The Danish reference pan genome	NC_000012.11 - 1995403	Apr 26, 2020 (154)
204	gnomAD - Genomes	NC_000012.12 - 1886237	Apr 26, 2021 (155)
205	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8772618 (NC_000012.11:1995402:T:T 24128/249246, NC_000012.11:1995402:T:C 225118/249246) Row 8772619 (NC_000012.11:1995402:T:T 249245/249246, NC_000012.11:1995402:T:G 1/249246)	-	Jul 13, 2019 (153)
206	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8772618 (NC_000012.11:1995402:T:T 24128/249246, NC_000012.11:1995402:T:C 225118/249246) Row 8772619 (NC_000012.11:1995402:T:T 249245/249246, NC_000012.11:1995402:T:G 1/249246)	-	Jul 13, 2019 (153)
207	GO Exome Sequencing Project	NC_000012.11 - 1995403	Oct 12, 2018 (152)
208	Genome of the Netherlands Release 5	NC_000012.11 - 1995403	Apr 26, 2020 (154)
209	HGDP-CEPH-db Supplement 1	NC_000012.10 - 1865664	Apr 26, 2020 (154)
210	HapMap	NC_000012.12 - 1886237	Apr 26, 2020 (154)
211	KOREAN population from KRGDB	NC_000012.11 - 1995403	Apr 26, 2020 (154)
212	Korean Genome Project	NC_000012.12 - 1886237	Apr 26, 2020 (154)
213	Medical Genome Project healthy controls from Spanish population	NC_000012.11 - 1995403	Apr 26, 2020 (154)
214	Northern Sweden	NC_000012.11 - 1995403	Jul 13, 2019 (153)
215	The PAGE Study	NC_000012.12 - 1886237	Jul 13, 2019 (153)
216	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 1995403	Apr 26, 2021 (155)
217	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 210457 (NC_000012.11:1995402:T:C 790/792) Row 210458 (NC_000012.11:1995402:T:C 790/792)	-	Apr 26, 2021 (155)
218	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 210457 (NC_000012.11:1995402:T:C 790/792) Row 210458 (NC_000012.11:1995402:T:C 790/792)	-	Apr 26, 2021 (155)
219	Qatari	NC_000012.11 - 1995403	Apr 26, 2020 (154)
220	SGDP_PRJ	NC_000012.11 - 1995403	Apr 26, 2020 (154)
221	Siberian	NC_000012.11 - 1995403	Apr 26, 2020 (154)
222	8.3KJPN	NC_000012.11 - 1995403	Apr 26, 2021 (155)
223	14KJPN	NC_000012.12 - 1886237	Oct 18, 2022 (156)
224	TopMed	NC_000012.12 - 1886237	Apr 26, 2021 (155)
225	UK 10K study - Twins	NC_000012.11 - 1995403	Oct 12, 2018 (152)
226	A Vietnamese Genetic Variation Database	NC_000012.11 - 1995403	Jul 13, 2019 (153)
227	ALFA	NC_000012.12 - 1886237	Apr 26, 2021 (155)
228	ClinVar	RCV000244285.1	Oct 12, 2018 (152)
229	ClinVar	RCV000365597.3	Apr 26, 2021 (155)
230	ClinVar	RCV001094108.4	Oct 18, 2022 (156)
231	ClinVar	RCV001522851.4	Oct 18, 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)
rs17223596	Oct 08, 2004 (123)
rs52832012	Sep 21, 2007 (128)
rs61559952	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77600422, ss80175874, ss3638985136, ss3639494151	NC_000012.9:1865663:T:C	NC_000012.12:1886236:T:C	(self)
94486, 116585, ss88912580, ss111369386, ss115436215, ss118513694, ss159912700, ss167637797, ss168855054, ss170244558, ss203455253, ss208002834, ss254815893, ss281244353, ss286491959, ss291237905, ss479324514, ss491658011, ss825347001, ss1397623459, ss1598836144, ss1713301023, ss3642937838, ss3847438693	NC_000012.10:1865663:T:C	NC_000012.12:1886236:T:C	(self)
56336775, 31285183, 22157177, 75996, 2814049, 1151111, 13956667, 33209745, 432093, 11992901, 796528, 14567165, 29555220, 7844626, 62715529, 31285183, 6940540, ss225568194, ss235795677, ss242379667, ss479327661, ss479716663, ss484462531, ss491034196, ss491462477, ss536626219, ss562949442, ss658474714, ss713068979, ss778362127, ss780906697, ss782677820, ss783594073, ss783646382, ss831928570, ss832650589, ss833241278, ss833816912, ss974482091, ss989164890, ss1067530428, ss1078195504, ss1343727932, ss1426820018, ss1576070561, ss1584079535, ss1627875840, ss1670869873, ss1690736592, ss1711316333, ss1752059192, ss1752059193, ss1807085943, ss1917869315, ss1932525235, ss1946328779, ss1946328780, ss1959405613, ss1959405614, ss1967505948, ss2027009774, ss2155328272, ss2627981397, ss2632914824, ss2699647171, ss2710751592, ss2739549077, ss2748788126, ss2906571464, ss2984964602, ss3009087992, ss3021398004, ss3021398005, ss3349886781, ss3625614048, ss3626797822, ss3626797823, ss3630927090, ss3633007307, ss3633707658, ss3634486477, ss3634486478, ss3635398766, ss3636170700, ss3637149709, ss3637942405, ss3640193812, ss3640193813, ss3641024053, ss3641318645, ss3644581713, ss3644581714, ss3646435923, ss3651768870, ss3651768871, ss3653736831, ss3676418929, ss3738708036, ss3744093854, ss3744390564, ss3744787202, ss3744787203, ss3750053813, ss3772286825, ss3772286826, ss3787120630, ss3792237547, ss3797120384, ss3824693602, ss3825814359, ss3832937086, ss3840030893, ss3877538240, ss3926032351, ss3984018638, ss3984660966, ss3984660967, ss3985570601, ss3986057699, ss3986554275, ss5204746222, ss5315593974, ss5623955988, ss5624027939, ss5652450036, ss5799861269, ss5800064368, ss5800173662, ss5837491285, ss5847656795, ss5848342697, ss5936551373, ss5943798040, ss5980715208, ss5981272644	NC_000012.11:1995402:T:C	NC_000012.12:1886236:T:C	(self)
RCV000244285.1, RCV000365597.3, RCV001094108.4, RCV001522851.4, 73898469, 397335098, 740665, 27513657, 890076, 87280984, 121956185, 7938570594, ss2187260766, ss3027307621, ss3649747027, ss3692975111, ss3725296098, ss3771668607, ss3815371666, ss3845513245, ss3971135656, ss4906410528, ss5236901757, ss5237217824, ss5237659135, ss5289563247, ss5314434193, ss5484483012, ss5586372534, ss5753443880, ss5812942630, ss5850231000, ss5903015092	NC_000012.12:1886236:T:C	NC_000012.12:1886236:T:C	(self)
ss15927630, ss16570024, ss17456342, ss18512175, ss18749638, ss18967778, ss20980992	NT_009759.15:1849663:T:C	NC_000012.12:1886236:T:C	(self)
ss24611009, ss66539837, ss66897011, ss67007699, ss69098228, ss70377390, ss70493067, ss71017815, ss74810304, ss75614161, ss84983857, ss97199318, ss106781897, ss121375003, ss132957433, ss137515695, ss152799704, ss157012991, ss159137931, ss169579507, ss170416859	NT_009759.16:1935402:T:C	NC_000012.12:1886236:T:C	(self)
ss1690736593, ss2739549077	NC_000012.11:1995402:T:G	NC_000012.12:1886236:T:G	(self)

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

1 citation for rs10735005

PMID	Title	Author	Year	Journal
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

rs10735005