Name: rs10740993
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.

rs10740993

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:18153553 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.451369 (130766/289710, ALFA)
T=0.493150 (130532/264690, TOPMED)
C=0.497563 (69019/138714, GnomAD) (+ 21 more)
C=0.47149 (37047/78574, PAGE_STUDY)
C=0.44663 (12621/28258, 14KJPN)
C=0.44368 (7436/16760, 8.3KJPN)
C=0.4706 (3014/6404, 1000G_30x)
C=0.4696 (2352/5008, 1000G)
C=0.4672 (2093/4480, Estonian)
T=0.4227 (1629/3854, ALSPAC)
T=0.4210 (1561/3708, TWINSUK)
C=0.4017 (1177/2930, KOREAN)
C=0.4722 (984/2084, HGDP_Stanford)
C=0.4514 (854/1892, HapMap)
C=0.4116 (754/1832, Korea1K)
T=0.4982 (565/1134, Daghestan)
T=0.452 (451/998, GoNL)
C=0.397 (311/784, PRJEB37584)
C=0.495 (297/600, NorthernSweden)
C=0.310 (124/400, SGDP_PRJ)
C=0.491 (106/216, Qatari)
T=0.38 (15/40, GENOME_DK)
C=0.38 (13/34, Siberian)
T=0.12 (2/16, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNB2 : Intron 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	294840	C=0.548033	T=0.451967
European	Sub	265542	C=0.556138	T=0.443862
African	Sub	8866	C=0.4041	T=0.5959
African Others	Sub	364	C=0.302	T=0.698
African American	Sub	8502	C=0.4085	T=0.5915
Asian	Sub	3604	C=0.4168	T=0.5832
East Asian	Sub	2894	C=0.4126	T=0.5874
Other Asian	Sub	710	C=0.434	T=0.566
Latin American 1	Sub	1020	C=0.5539	T=0.4461
Latin American 2	Sub	2956	C=0.5650	T=0.4350
South Asian	Sub	5188	C=0.5004	T=0.4996
Other	Sub	7664	C=0.5204	T=0.4796

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	289710	C=0.548631	T=0.451369
Allele Frequency Aggregator	European	Sub	262372	C=0.556184	T=0.443816
Allele Frequency Aggregator	African	Sub	7724	C=0.4060	T=0.5940
Allele Frequency Aggregator	Other	Sub	6846	C=0.5183	T=0.4817
Allele Frequency Aggregator	South Asian	Sub	5188	C=0.5004	T=0.4996
Allele Frequency Aggregator	Asian	Sub	3604	C=0.4168	T=0.5832
Allele Frequency Aggregator	Latin American 2	Sub	2956	C=0.5650	T=0.4350
Allele Frequency Aggregator	Latin American 1	Sub	1020	C=0.5539	T=0.4461
TopMed	Global	Study-wide	264690	C=0.506850	T=0.493150
gnomAD - Genomes	Global	Study-wide	138714	C=0.497563	T=0.502437
gnomAD - Genomes	European	Sub	75258	C=0.53826	T=0.46174
gnomAD - Genomes	African	Sub	41508	C=0.40036	T=0.59964
gnomAD - Genomes	American	Sub	13410	C=0.57271	T=0.42729
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	C=0.5818	T=0.4182
gnomAD - Genomes	East Asian	Sub	3094	C=0.3914	T=0.6086
gnomAD - Genomes	Other	Sub	2130	C=0.5042	T=0.4958
The PAGE Study	Global	Study-wide	78574	C=0.47149	T=0.52851
The PAGE Study	AfricanAmerican	Sub	32462	C=0.40943	T=0.59057
The PAGE Study	Mexican	Sub	10802	C=0.57823	T=0.42177
The PAGE Study	Asian	Sub	8302	C=0.4407	T=0.5593
The PAGE Study	PuertoRican	Sub	7904	C=0.5543	T=0.4457
The PAGE Study	NativeHawaiian	Sub	4526	C=0.4032	T=0.5968
The PAGE Study	Cuban	Sub	4218	C=0.5415	T=0.4585
The PAGE Study	Dominican	Sub	3820	C=0.4490	T=0.5510
The PAGE Study	CentralAmerican	Sub	2448	C=0.5870	T=0.4130
The PAGE Study	SouthAmerican	Sub	1978	C=0.5404	T=0.4596
The PAGE Study	NativeAmerican	Sub	1260	C=0.5484	T=0.4516
The PAGE Study	SouthAsian	Sub	854	C=0.526	T=0.474
14KJPN	JAPANESE	Study-wide	28258	C=0.44663	T=0.55337
8.3KJPN	JAPANESE	Study-wide	16760	C=0.44368	T=0.55632
1000Genomes_30x	Global	Study-wide	6404	C=0.4706	T=0.5294
1000Genomes_30x	African	Sub	1786	C=0.3572	T=0.6428
1000Genomes_30x	Europe	Sub	1266	C=0.5387	T=0.4613
1000Genomes_30x	South Asian	Sub	1202	C=0.5466	T=0.4534
1000Genomes_30x	East Asian	Sub	1170	C=0.4222	T=0.5778
1000Genomes_30x	American	Sub	980	C=0.554	T=0.446
1000Genomes	Global	Study-wide	5008	C=0.4696	T=0.5304
1000Genomes	African	Sub	1322	C=0.3585	T=0.6415
1000Genomes	East Asian	Sub	1008	C=0.4206	T=0.5794
1000Genomes	Europe	Sub	1006	C=0.5239	T=0.4761
1000Genomes	South Asian	Sub	978	C=0.552	T=0.448
1000Genomes	American	Sub	694	C=0.558	T=0.442
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4672	T=0.5328
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5773	T=0.4227
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5790	T=0.4210
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.4017	T=0.5983
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.4722	T=0.5278
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.457	T=0.543
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.505	T=0.495
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.540	T=0.460
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.541	T=0.459
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.277	T=0.723
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.523	T=0.477
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.25	T=0.75
HapMap	Global	Study-wide	1892	C=0.4514	T=0.5486
HapMap	American	Sub	770	C=0.526	T=0.474
HapMap	African	Sub	692	C=0.366	T=0.634
HapMap	Asian	Sub	254	C=0.433	T=0.567
HapMap	Europe	Sub	176	C=0.489	T=0.511
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4116	T=0.5884
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.5018	T=0.4982
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.478	T=0.522
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.500	T=0.500
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.525	T=0.475
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.509	T=0.491
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.55	T=0.45
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.69	T=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.548	T=0.452
CNV burdens in cranial meningiomas	Global	Study-wide	784	C=0.397	T=0.603
CNV burdens in cranial meningiomas	CRM	Sub	784	C=0.397	T=0.603
Northern Sweden	ACPOP	Study-wide	600	C=0.495	T=0.505
SGDP_PRJ	Global	Study-wide	400	C=0.310	T=0.690
Qatari	Global	Study-wide	216	C=0.491	T=0.509
The Danish reference pan genome	Danish	Study-wide	40	C=0.62	T=0.38
Siberian	Global	Study-wide	34	C=0.38	T=0.62
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	16	C=0.88	T=0.12

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 10	NC_000010.11:g.18153553C>T
GRCh37.p13 chr 10	NC_000010.10:g.18442482C>T
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.17877C>T

Gene: CACNB2, calcium voltage-gated channel auxiliary subunit beta 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNB2 transcript variant 9	NM_001167945.2:c.129+2578… NM_001167945.2:c.129+2578C>T	N/A	Intron Variant
CACNB2 transcript variant 6	NM_201571.4:c.129+2578C>T	N/A	Intron Variant
CACNB2 transcript variant 8	NM_201572.4:c.129+2578C>T	N/A	Intron Variant
CACNB2 transcript variant 5	NM_201593.3:c.213+2578C>T	N/A	Intron Variant
CACNB2 transcript variant 2	NM_201596.3:c.213+2578C>T	N/A	Intron Variant
CACNB2 transcript variant 4	NM_201597.3:c.213+2578C>T	N/A	Intron Variant
CACNB2 transcript variant 1	NM_000724.4:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant 10	NM_001330060.2:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant 7	NM_201570.3:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant 3	NM_201590.3:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant X4	XM_047425725.1:c.213+2578… XM_047425725.1:c.213+2578C>T	N/A	Intron Variant
CACNB2 transcript variant X3	XM_005252588.5:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant X3	XM_005252591.4:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant X1	XM_006717502.4:c.	N/A	Genic Upstream Transcript Variant
CACNB2 transcript variant X2	XM_011519659.3:c.	N/A	Genic Upstream Transcript 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	C=	T
GRCh38.p14 chr 10	NC_000010.11:g.18153553=	NC_000010.11:g.18153553C>T
GRCh37.p13 chr 10	NC_000010.10:g.18442482=	NC_000010.10:g.18442482C>T
CACNB2 RefSeqGene (LRG_381)	NG_016195.1:g.17877=	NG_016195.1:g.17877C>T
CACNB2 transcript variant 9	NM_001167945.1:c.129+2578=	NM_001167945.1:c.129+2578C>T
CACNB2 transcript variant 9	NM_001167945.2:c.129+2578=	NM_001167945.2:c.129+2578C>T
CACNB2 transcript variant 6	NM_201571.3:c.129+2578=	NM_201571.3:c.129+2578C>T
CACNB2 transcript variant 6	NM_201571.4:c.129+2578=	NM_201571.4:c.129+2578C>T
CACNB2 transcript variant 8	NM_201572.3:c.129+2578=	NM_201572.3:c.129+2578C>T
CACNB2 transcript variant 8	NM_201572.4:c.129+2578=	NM_201572.4:c.129+2578C>T
CACNB2 transcript variant 5	NM_201593.2:c.213+2578=	NM_201593.2:c.213+2578C>T
CACNB2 transcript variant 5	NM_201593.3:c.213+2578=	NM_201593.3:c.213+2578C>T
CACNB2 transcript variant 2	NM_201596.2:c.213+2578=	NM_201596.2:c.213+2578C>T
CACNB2 transcript variant 2	NM_201596.3:c.213+2578=	NM_201596.3:c.213+2578C>T
CACNB2 transcript variant 4	NM_201597.2:c.213+2578=	NM_201597.2:c.213+2578C>T
CACNB2 transcript variant 4	NM_201597.3:c.213+2578=	NM_201597.3:c.213+2578C>T
CACNB2 transcript variant X4	XM_005252590.1:c.213+2578=	XM_005252590.1:c.213+2578C>T
CACNB2 transcript variant X4	XM_047425725.1:c.213+2578=	XM_047425725.1:c.213+2578C>T

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#.

141 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15876363	Feb 27, 2004 (120)
2	SC_SNP	ss18421671	Feb 27, 2004 (120)
3	SC_SNP	ss18876138	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19166540	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19882863	Feb 27, 2004 (120)
6	SSAHASNP	ss20652620	Apr 05, 2004 (121)
7	ABI	ss39783538	Mar 16, 2006 (126)
8	ILLUMINA	ss66897450	Nov 30, 2006 (127)
9	ILLUMINA	ss67008741	Nov 30, 2006 (127)
10	ILLUMINA	ss68087373	Dec 12, 2006 (127)
11	ILLUMINA	ss70493512	May 25, 2008 (130)
12	ILLUMINA	ss71018342	May 17, 2007 (127)
13	ILLUMINA	ss75769837	Dec 06, 2007 (129)
14	HGSV	ss78603637	Dec 06, 2007 (129)
15	KRIBB_YJKIM	ss84985384	Dec 15, 2007 (130)
16	BCMHGSC_JDW	ss88117595	Mar 23, 2008 (129)
17	HUMANGENOME_JCVI	ss97627076	Feb 05, 2009 (130)
18	BGI	ss102858905	Dec 01, 2009 (131)
19	1000GENOMES	ss115435955	Jan 25, 2009 (130)
20	ILLUMINA-UK	ss119063368	Dec 01, 2009 (131)
21	ENSEMBL	ss131716420	Dec 01, 2009 (131)
22	ENSEMBL	ss131869852	Dec 01, 2009 (131)
23	ILLUMINA	ss152802044	Dec 01, 2009 (131)
24	GMI	ss154667262	Dec 01, 2009 (131)
25	ILLUMINA	ss159138395	Dec 01, 2009 (131)
26	ILLUMINA	ss159913554	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss167956907	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss169265931	Jul 04, 2010 (132)
29	ILLUMINA	ss170429512	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss170578178	Jul 04, 2010 (132)
31	BUSHMAN	ss201223466	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss207308505	Jul 04, 2010 (132)
33	1000GENOMES	ss224600485	Jul 14, 2010 (132)
34	1000GENOMES	ss235080677	Jul 15, 2010 (132)
35	1000GENOMES	ss241807366	Jul 15, 2010 (132)
36	BL	ss254112487	May 09, 2011 (134)
37	GMI	ss280505378	May 04, 2012 (137)
38	GMI	ss286141627	Apr 25, 2013 (138)
39	PJP	ss290987020	May 09, 2011 (134)
40	ILLUMINA	ss479326993	May 04, 2012 (137)
41	ILLUMINA	ss479330137	May 04, 2012 (137)
42	ILLUMINA	ss479720084	Sep 08, 2015 (146)
43	ILLUMINA	ss484463747	May 04, 2012 (137)
44	ILLUMINA	ss536627081	Sep 08, 2015 (146)
45	TISHKOFF	ss561811684	Apr 25, 2013 (138)
46	ILLUMINA	ss778362409	Sep 08, 2015 (146)
47	ILLUMINA	ss782678439	Sep 08, 2015 (146)
48	ILLUMINA	ss783646994	Sep 08, 2015 (146)
49	ILLUMINA	ss831929197	Sep 08, 2015 (146)
50	ILLUMINA	ss832651050	Jul 13, 2019 (153)
51	ILLUMINA	ss833817196	Sep 08, 2015 (146)
52	EVA-GONL	ss987255987	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1076810545	Aug 21, 2014 (142)
54	1000GENOMES	ss1336508706	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397575418	Sep 08, 2015 (146)
56	DDI	ss1426241673	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1574958521	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1624112290	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1667106323	Apr 01, 2015 (144)
60	EVA_SVP	ss1713162922	Apr 01, 2015 (144)
61	ILLUMINA	ss1751960320	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1806285662	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1930584930	Feb 12, 2016 (147)
64	ILLUMINA	ss1946277527	Feb 12, 2016 (147)
65	ILLUMINA	ss1959244818	Feb 12, 2016 (147)
66	GENOMED	ss1967074506	Jul 19, 2016 (147)
67	JJLAB	ss2026018953	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2154263133	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2173130166	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2627479977	Nov 08, 2017 (151)
71	ILLUMINA	ss2632684636	Nov 08, 2017 (151)
72	GRF	ss2698491959	Nov 08, 2017 (151)
73	ILLUMINA	ss2710705054	Nov 08, 2017 (151)
74	GNOMAD	ss2886151033	Nov 08, 2017 (151)
75	SWEGEN	ss3006034399	Nov 08, 2017 (151)
76	ILLUMINA	ss3021220336	Nov 08, 2017 (151)
77	BIOINF_KMB_FNS_UNIBA	ss3026795954	Nov 08, 2017 (151)
78	CSHL	ss3348991817	Nov 08, 2017 (151)
79	ILLUMINA	ss3625575318	Oct 12, 2018 (152)
80	ILLUMINA	ss3626401805	Oct 12, 2018 (152)
81	ILLUMINA	ss3630711865	Oct 12, 2018 (152)
82	ILLUMINA	ss3632941571	Oct 12, 2018 (152)
83	ILLUMINA	ss3633638344	Oct 12, 2018 (152)
84	ILLUMINA	ss3634393797	Oct 12, 2018 (152)
85	ILLUMINA	ss3635331073	Oct 12, 2018 (152)
86	ILLUMINA	ss3636074366	Oct 12, 2018 (152)
87	ILLUMINA	ss3637081677	Oct 12, 2018 (152)
88	ILLUMINA	ss3637838072	Oct 12, 2018 (152)
89	ILLUMINA	ss3638934793	Oct 12, 2018 (152)
90	ILLUMINA	ss3639778898	Oct 12, 2018 (152)
91	ILLUMINA	ss3640101140	Oct 12, 2018 (152)
92	ILLUMINA	ss3640998417	Oct 12, 2018 (152)
93	ILLUMINA	ss3641292650	Oct 12, 2018 (152)
94	ILLUMINA	ss3642842353	Oct 12, 2018 (152)
95	ILLUMINA	ss3643831783	Oct 12, 2018 (152)
96	ILLUMINA	ss3644530211	Oct 12, 2018 (152)
97	URBANLAB	ss3649305311	Oct 12, 2018 (152)
98	ILLUMINA	ss3651570239	Oct 12, 2018 (152)
99	ILLUMINA	ss3653677101	Oct 12, 2018 (152)
100	EGCUT_WGS	ss3673560622	Jul 13, 2019 (153)
101	EVA_DECODE	ss3689402103	Jul 13, 2019 (153)
102	ILLUMINA	ss3725141127	Jul 13, 2019 (153)
103	ACPOP	ss3737115211	Jul 13, 2019 (153)
104	ILLUMINA	ss3744067162	Jul 13, 2019 (153)
105	ILLUMINA	ss3744694707	Jul 13, 2019 (153)
106	EVA	ss3747820487	Jul 13, 2019 (153)
107	PAGE_CC	ss3771546333	Jul 13, 2019 (153)
108	ILLUMINA	ss3772195330	Jul 13, 2019 (153)
109	PACBIO	ss3786600385	Jul 13, 2019 (153)
110	PACBIO	ss3791790823	Jul 13, 2019 (153)
111	PACBIO	ss3796672732	Jul 13, 2019 (153)
112	KHV_HUMAN_GENOMES	ss3813182612	Jul 13, 2019 (153)
113	EVA	ss3832000760	Apr 26, 2020 (154)
114	EVA	ss3839532424	Apr 26, 2020 (154)
115	EVA	ss3844999305	Apr 26, 2020 (154)
116	HGDP	ss3847378349	Apr 26, 2020 (154)
117	SGDP_PRJ	ss3873666752	Apr 26, 2020 (154)
118	KRGDB	ss3921615917	Apr 26, 2020 (154)
119	KOGIC	ss3967318499	Apr 26, 2020 (154)
120	EVA	ss3984630909	Apr 26, 2021 (155)
121	EVA	ss3985462420	Apr 26, 2021 (155)
122	EVA	ss4017474374	Apr 26, 2021 (155)
123	TOPMED	ss4844375159	Apr 26, 2021 (155)
124	TOMMO_GENOMICS	ss5196528225	Apr 26, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5283130472	Oct 16, 2022 (156)
126	EVA	ss5315457495	Oct 16, 2022 (156)
127	EVA	ss5391969099	Oct 16, 2022 (156)
128	HUGCELL_USP	ss5478887280	Oct 16, 2022 (156)
129	EVA	ss5509921047	Oct 16, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5576611707	Oct 16, 2022 (156)
131	SANFORD_IMAGENETICS	ss5624242151	Oct 16, 2022 (156)
132	SANFORD_IMAGENETICS	ss5648795270	Oct 16, 2022 (156)
133	TOMMO_GENOMICS	ss5741454277	Oct 16, 2022 (156)
134	YY_MCH	ss5811250799	Oct 16, 2022 (156)
135	EVA	ss5824059745	Oct 16, 2022 (156)
136	EVA	ss5847369266	Oct 16, 2022 (156)
137	EVA	ss5847589191	Oct 16, 2022 (156)
138	EVA	ss5849466152	Oct 16, 2022 (156)
139	EVA	ss5877976324	Oct 16, 2022 (156)
140	EVA	ss5940084162	Oct 16, 2022 (156)
141	EVA	ss5979319170	Oct 16, 2022 (156)
142	1000Genomes	NC_000010.10 - 18442482	Oct 12, 2018 (152)
143	1000Genomes_30x	NC_000010.11 - 18153553	Oct 16, 2022 (156)
144	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 18442482	Oct 12, 2018 (152)
145	Genome-wide autozygosity in Daghestan	NC_000010.9 - 18482488	Apr 26, 2020 (154)
146	Genetic variation in the Estonian population	NC_000010.10 - 18442482	Oct 12, 2018 (152)
147	The Danish reference pan genome	NC_000010.10 - 18442482	Apr 26, 2020 (154)
148	gnomAD - Genomes	NC_000010.11 - 18153553	Apr 26, 2021 (155)
149	Genome of the Netherlands Release 5	NC_000010.10 - 18442482	Apr 26, 2020 (154)
150	HGDP-CEPH-db Supplement 1	NC_000010.9 - 18482488	Apr 26, 2020 (154)
151	HapMap	NC_000010.11 - 18153553	Apr 26, 2020 (154)
152	KOREAN population from KRGDB	NC_000010.10 - 18442482	Apr 26, 2020 (154)
153	Korean Genome Project	NC_000010.11 - 18153553	Apr 26, 2020 (154)
154	Northern Sweden	NC_000010.10 - 18442482	Jul 13, 2019 (153)
155	The PAGE Study	NC_000010.11 - 18153553	Jul 13, 2019 (153)
156	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 18442482	Apr 26, 2021 (155)
157	CNV burdens in cranial meningiomas	NC_000010.10 - 18442482	Apr 26, 2021 (155)
158	Qatari	NC_000010.10 - 18442482	Apr 26, 2020 (154)
159	SGDP_PRJ	NC_000010.10 - 18442482	Apr 26, 2020 (154)
160	Siberian	NC_000010.10 - 18442482	Apr 26, 2020 (154)
161	8.3KJPN	NC_000010.10 - 18442482	Apr 26, 2021 (155)
162	14KJPN	NC_000010.11 - 18153553	Oct 16, 2022 (156)
163	TopMed	NC_000010.11 - 18153553	Apr 26, 2021 (155)
164	UK 10K study - Twins	NC_000010.10 - 18442482	Oct 12, 2018 (152)
165	ALFA	NC_000010.11 - 18153553	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)
rs58962848	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78603637, ss3638934793, ss3639778898, ss3643831783	NC_000010.8:18482487:C:T	NC_000010.11:18153552:C:T	(self)
46985, 56241, ss88117595, ss115435955, ss119063368, ss167956907, ss169265931, ss170578178, ss201223466, ss207308505, ss254112487, ss280505378, ss286141627, ss290987020, ss479326993, ss1397575418, ss1713162922, ss3642842353, ss3847378349	NC_000010.9:18482487:C:T	NC_000010.11:18153552:C:T	(self)
48863304, 27152840, 19298870, 2057837, 12107993, 28793311, 10400076, 688347, 180366, 12626860, 25683732, 6779487, 54497532, 27152840, ss224600485, ss235080677, ss241807366, ss479330137, ss479720084, ss484463747, ss536627081, ss561811684, ss778362409, ss782678439, ss783646994, ss831929197, ss832651050, ss833817196, ss987255987, ss1076810545, ss1336508706, ss1426241673, ss1574958521, ss1624112290, ss1667106323, ss1751960320, ss1806285662, ss1930584930, ss1946277527, ss1959244818, ss1967074506, ss2026018953, ss2154263133, ss2627479977, ss2632684636, ss2698491959, ss2710705054, ss2886151033, ss3006034399, ss3021220336, ss3348991817, ss3625575318, ss3626401805, ss3630711865, ss3632941571, ss3633638344, ss3634393797, ss3635331073, ss3636074366, ss3637081677, ss3637838072, ss3640101140, ss3640998417, ss3641292650, ss3644530211, ss3651570239, ss3653677101, ss3673560622, ss3737115211, ss3744067162, ss3744694707, ss3747820487, ss3772195330, ss3786600385, ss3791790823, ss3796672732, ss3832000760, ss3839532424, ss3873666752, ss3921615917, ss3984630909, ss3985462420, ss4017474374, ss5196528225, ss5315457495, ss5391969099, ss5509921047, ss5624242151, ss5648795270, ss5824059745, ss5847369266, ss5847589191, ss5940084162, ss5979319170	NC_000010.10:18442481:C:T	NC_000010.11:18153552:C:T	(self)
64137642, 345084928, 352608, 23696500, 767802, 75291381, 59920814, 5481298908, ss2173130166, ss3026795954, ss3649305311, ss3689402103, ss3725141127, ss3771546333, ss3813182612, ss3844999305, ss3967318499, ss4844375159, ss5283130472, ss5478887280, ss5576611707, ss5741454277, ss5811250799, ss5849466152, ss5877976324	NC_000010.11:18153552:C:T	NC_000010.11:18153552:C:T	(self)
ss15876363, ss18421671, ss18876138, ss19166540, ss19882863, ss20652620	NT_008705.15:417806:C:T	NC_000010.11:18153552:C:T	(self)
ss39783538, ss66897450, ss67008741, ss68087373, ss70493512, ss71018342, ss75769837, ss84985384, ss97627076, ss102858905, ss131716420, ss131869852, ss152802044, ss154667262, ss159138395, ss159913554, ss170429512	NT_008705.16:18382481:C:T	NC_000010.11:18153552: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 rs10740993

PMID	Title	Author	Year	Journal
23704328	Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.	Fatemifar G et al.	2013	Human molecular genetics
35124268	Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19.	Li J et al.	2022	Clinical gastroenterology and hepatology

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

rs10740993