Name: rs6424814
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.

rs6424814

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:181536881 (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=0.344229 (91114/264690, TOPMED)
C=0.307305 (74986/244012, ALFA)
C=0.345471 (48225/139592, GnomAD) (+ 19 more)
C=0.33894 (26672/78692, PAGE_STUDY)
C=0.17950 (5072/28256, 14KJPN)
C=0.17751 (2975/16760, 8.3KJPN)
C=0.3037 (1945/6404, 1000G_30x)
C=0.2969 (1487/5008, 1000G)
C=0.3096 (1387/4480, Estonian)
C=0.3246 (1251/3854, ALSPAC)
C=0.3263 (1210/3708, TWINSUK)
C=0.2235 (655/2930, KOREAN)
C=0.2347 (430/1832, Korea1K)
C=0.342 (341/998, GoNL)
C=0.208 (165/792, PRJEB37584)
C=0.290 (174/600, NorthernSweden)
T=0.400 (100/250, SGDP_PRJ)
C=0.282 (61/216, Qatari)
C=0.151 (32/212, Vietnamese)
C=0.322 (67/208, HapMap)
C=0.40 (16/40, GENOME_DK)
T=0.45 (18/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CACNA1E : Intron Variant
Publications: 0 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	249046	T=0.691924	C=0.308076
European	Sub	220584	T=0.692811	C=0.307189
African	Sub	7536	T=0.5528	C=0.4472
African Others	Sub	316	T=0.487	C=0.513
African American	Sub	7220	T=0.5557	C=0.4443
Asian	Sub	3860	T=0.8031	C=0.1969
East Asian	Sub	3128	T=0.7788	C=0.2212
Other Asian	Sub	732	T=0.907	C=0.093
Latin American 1	Sub	1024	T=0.6807	C=0.3193
Latin American 2	Sub	6584	T=0.7221	C=0.2779
South Asian	Sub	366	T=0.842	C=0.158
Other	Sub	9092	T=0.7119	C=0.2881

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=0.655771	C=0.344229
Allele Frequency Aggregator	Total	Global	244012	T=0.692695	C=0.307305
Allele Frequency Aggregator	European	Sub	217492	T=0.692950	C=0.307050
Allele Frequency Aggregator	Other	Sub	8292	T=0.7166	C=0.2834
Allele Frequency Aggregator	Latin American 2	Sub	6584	T=0.7221	C=0.2779
Allele Frequency Aggregator	African	Sub	6394	T=0.5496	C=0.4504
Allele Frequency Aggregator	Asian	Sub	3860	T=0.8031	C=0.1969
Allele Frequency Aggregator	Latin American 1	Sub	1024	T=0.6807	C=0.3193
Allele Frequency Aggregator	South Asian	Sub	366	T=0.842	C=0.158
gnomAD - Genomes	Global	Study-wide	139592	T=0.654529	C=0.345471
gnomAD - Genomes	European	Sub	75738	T=0.69359	C=0.30641
gnomAD - Genomes	African	Sub	41694	T=0.55795	C=0.44205
gnomAD - Genomes	American	Sub	13582	T=0.69636	C=0.30364
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.6746	C=0.3254
gnomAD - Genomes	East Asian	Sub	3122	T=0.7783	C=0.2217
gnomAD - Genomes	Other	Sub	2140	T=0.6766	C=0.3234
The PAGE Study	Global	Study-wide	78692	T=0.66106	C=0.33894
The PAGE Study	AfricanAmerican	Sub	32508	T=0.56411	C=0.43589
The PAGE Study	Mexican	Sub	10810	T=0.73608	C=0.26392
The PAGE Study	Asian	Sub	8318	T=0.8055	C=0.1945
The PAGE Study	PuertoRican	Sub	7918	T=0.6398	C=0.3602
The PAGE Study	NativeHawaiian	Sub	4532	T=0.8475	C=0.1525
The PAGE Study	Cuban	Sub	4230	T=0.7047	C=0.2953
The PAGE Study	Dominican	Sub	3828	T=0.6515	C=0.3485
The PAGE Study	CentralAmerican	Sub	2450	T=0.6971	C=0.3029
The PAGE Study	SouthAmerican	Sub	1982	T=0.6821	C=0.3179
The PAGE Study	NativeAmerican	Sub	1260	T=0.6786	C=0.3214
The PAGE Study	SouthAsian	Sub	856	T=0.850	C=0.150
14KJPN	JAPANESE	Study-wide	28256	T=0.82050	C=0.17950
8.3KJPN	JAPANESE	Study-wide	16760	T=0.82249	C=0.17751
1000Genomes_30x	Global	Study-wide	6404	T=0.6963	C=0.3037
1000Genomes_30x	African	Sub	1786	T=0.5084	C=0.4916
1000Genomes_30x	Europe	Sub	1266	T=0.6998	C=0.3002
1000Genomes_30x	South Asian	Sub	1202	T=0.8744	C=0.1256
1000Genomes_30x	East Asian	Sub	1170	T=0.8043	C=0.1957
1000Genomes_30x	American	Sub	980	T=0.687	C=0.313
1000Genomes	Global	Study-wide	5008	T=0.7031	C=0.2969
1000Genomes	African	Sub	1322	T=0.5030	C=0.4970
1000Genomes	East Asian	Sub	1008	T=0.8056	C=0.1944
1000Genomes	Europe	Sub	1006	T=0.6998	C=0.3002
1000Genomes	South Asian	Sub	978	T=0.882	C=0.118
1000Genomes	American	Sub	694	T=0.687	C=0.313
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6904	C=0.3096
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6754	C=0.3246
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6737	C=0.3263
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7765	C=0.2235
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7653	C=0.2347
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.658	C=0.342
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.792	C=0.208
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.792	C=0.208
Northern Sweden	ACPOP	Study-wide	600	T=0.710	C=0.290
SGDP_PRJ	Global	Study-wide	250	T=0.400	C=0.600
Qatari	Global	Study-wide	216	T=0.718	C=0.282
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.849	C=0.151
HapMap	Global	Study-wide	208	T=0.678	C=0.322
HapMap	African	Sub	120	T=0.500	C=0.500
HapMap	Asian	Sub	88	T=0.92	C=0.08
The Danish reference pan genome	Danish	Study-wide	40	T=0.60	C=0.40
Siberian	Global	Study-wide	40	T=0.45	C=0.55

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 1	NC_000001.11:g.181536881T>C
GRCh37.p13 chr 1	NC_000001.10:g.181506017T>C
CACNA1E RefSeqGene	NG_050616.1:g.58571T>C

Gene: CACNA1E, calcium voltage-gated channel subunit alpha1 E (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CACNA1E transcript variant 3	NM_000721.4:c.512+25371T>C	N/A	Intron Variant
CACNA1E transcript variant 1	NM_001205293.3:c.512+2537… NM_001205293.3:c.512+25371T>C	N/A	Intron Variant
CACNA1E transcript variant 2	NM_001205294.2:c.512+2537… NM_001205294.2:c.512+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X1	XM_017002243.2:c.947+2537… XM_017002243.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X2	XM_017002244.2:c.947+2537… XM_017002244.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X3	XM_017002245.2:c.947+2537… XM_017002245.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X4	XM_017002246.2:c.947+2537… XM_017002246.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X5	XM_017002247.2:c.947+2537… XM_017002247.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X6	XM_017002248.2:c.947+2537… XM_017002248.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X8	XM_017002249.2:c.947+2537… XM_017002249.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X9	XM_017002250.2:c.947+2537… XM_017002250.2:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X10	XM_017002251.1:c.947+2537… XM_017002251.1:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X7	XM_047429979.1:c.947+2537… XM_047429979.1:c.947+25371T>C	N/A	Intron Variant
CACNA1E transcript variant X11	XM_047429980.1:c.947+2537… XM_047429980.1:c.947+25371T>C	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 1	NC_000001.11:g.181536881=	NC_000001.11:g.181536881T>C
GRCh37.p13 chr 1	NC_000001.10:g.181506017=	NC_000001.10:g.181506017T>C
CACNA1E RefSeqGene	NG_050616.1:g.58571=	NG_050616.1:g.58571T>C
CACNA1E transcript variant 3	NM_000721.3:c.512+25371=	NM_000721.3:c.512+25371T>C
CACNA1E transcript variant 3	NM_000721.4:c.512+25371=	NM_000721.4:c.512+25371T>C
CACNA1E transcript variant 1	NM_001205293.1:c.512+25371=	NM_001205293.1:c.512+25371T>C
CACNA1E transcript variant 1	NM_001205293.3:c.512+25371=	NM_001205293.3:c.512+25371T>C
CACNA1E transcript variant 2	NM_001205294.1:c.512+25371=	NM_001205294.1:c.512+25371T>C
CACNA1E transcript variant 2	NM_001205294.2:c.512+25371=	NM_001205294.2:c.512+25371T>C
CACNA1E transcript variant X1	XM_005245477.1:c.512+25371=	XM_005245477.1:c.512+25371T>C
CACNA1E transcript variant X1	XM_017002243.2:c.947+25371=	XM_017002243.2:c.947+25371T>C
CACNA1E transcript variant X2	XM_017002244.2:c.947+25371=	XM_017002244.2:c.947+25371T>C
CACNA1E transcript variant X3	XM_017002245.2:c.947+25371=	XM_017002245.2:c.947+25371T>C
CACNA1E transcript variant X4	XM_017002246.2:c.947+25371=	XM_017002246.2:c.947+25371T>C
CACNA1E transcript variant X5	XM_017002247.2:c.947+25371=	XM_017002247.2:c.947+25371T>C
CACNA1E transcript variant X6	XM_017002248.2:c.947+25371=	XM_017002248.2:c.947+25371T>C
CACNA1E transcript variant X8	XM_017002249.2:c.947+25371=	XM_017002249.2:c.947+25371T>C
CACNA1E transcript variant X9	XM_017002250.2:c.947+25371=	XM_017002250.2:c.947+25371T>C
CACNA1E transcript variant X10	XM_017002251.1:c.947+25371=	XM_017002251.1:c.947+25371T>C
CACNA1E transcript variant X7	XM_047429979.1:c.947+25371=	XM_047429979.1:c.947+25371T>C
CACNA1E transcript variant X11	XM_047429980.1:c.947+25371=	XM_047429980.1:c.947+25371T>C

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

105 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss9842373	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11373019	Jul 11, 2003 (116)
3	PERLEGEN	ss23171004	Sep 20, 2004 (123)
4	KRIBB_YJKIM	ss80751896	Dec 14, 2007 (130)
5	1000GENOMES	ss108749729	Jan 23, 2009 (130)
6	ILLUMINA-UK	ss119117842	Feb 15, 2009 (130)
7	ENSEMBL	ss144381283	Dec 01, 2009 (131)
8	ILLUMINA	ss160771732	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss165513890	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss167337967	Jul 04, 2010 (132)
11	BUSHMAN	ss199320067	Jul 04, 2010 (132)
12	1000GENOMES	ss210684329	Jul 14, 2010 (132)
13	1000GENOMES	ss218751048	Jul 14, 2010 (132)
14	1000GENOMES	ss230805658	Jul 14, 2010 (132)
15	1000GENOMES	ss238436965	Jul 15, 2010 (132)
16	GMI	ss276123396	May 04, 2012 (137)
17	GMI	ss284185485	Apr 25, 2013 (138)
18	PJP	ss290675545	May 09, 2011 (134)
19	ILLUMINA	ss481235282	May 04, 2012 (137)
20	ILLUMINA	ss481258961	May 04, 2012 (137)
21	ILLUMINA	ss482245121	Sep 08, 2015 (146)
22	ILLUMINA	ss485413008	May 04, 2012 (137)
23	ILLUMINA	ss537346576	Sep 08, 2015 (146)
24	TISHKOFF	ss554916098	Apr 25, 2013 (138)
25	SSMP	ss648538069	Apr 25, 2013 (138)
26	ILLUMINA	ss778567403	Sep 08, 2015 (146)
27	ILLUMINA	ss783151948	Sep 08, 2015 (146)
28	ILLUMINA	ss784107889	Sep 08, 2015 (146)
29	ILLUMINA	ss832411165	Sep 08, 2015 (146)
30	ILLUMINA	ss834024389	Sep 08, 2015 (146)
31	EVA-GONL	ss975878079	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1068412264	Aug 21, 2014 (142)
33	1000GENOMES	ss1293671745	Aug 21, 2014 (142)
34	DDI	ss1426036319	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1574517119	Apr 01, 2015 (144)
36	EVA_DECODE	ss1585268715	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1601613183	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1644607216	Apr 01, 2015 (144)
39	ILLUMINA	ss1751884969	Sep 08, 2015 (146)
40	HAMMER_LAB	ss1795362328	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1919115058	Feb 12, 2016 (147)
42	ILLUMINA	ss1946016594	Feb 12, 2016 (147)
43	ILLUMINA	ss1958337157	Feb 12, 2016 (147)
44	GENOMED	ss1966912333	Jul 19, 2016 (147)
45	JJLAB	ss2020073632	Sep 14, 2016 (149)
46	USC_VALOUEV	ss2148101332	Dec 20, 2016 (150)
47	HUMAN_LONGEVITY	ss2168065612	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2624545245	Nov 08, 2017 (151)
49	ILLUMINA	ss2632600416	Nov 08, 2017 (151)
50	GRF	ss2698083098	Nov 08, 2017 (151)
51	ILLUMINA	ss2710687027	Nov 08, 2017 (151)
52	GNOMAD	ss2763430159	Nov 08, 2017 (151)
53	SWEGEN	ss2988052496	Nov 08, 2017 (151)
54	ILLUMINA	ss3021157241	Nov 08, 2017 (151)
55	BIOINF_KMB_FNS_UNIBA	ss3023796535	Nov 08, 2017 (151)
56	CSHL	ss3343798522	Nov 08, 2017 (151)
57	ILLUMINA	ss3625556296	Oct 11, 2018 (152)
58	ILLUMINA	ss3626254425	Oct 11, 2018 (152)
59	ILLUMINA	ss3630631810	Oct 11, 2018 (152)
60	ILLUMINA	ss3632917321	Oct 11, 2018 (152)
61	ILLUMINA	ss3633612987	Oct 11, 2018 (152)
62	ILLUMINA	ss3634361329	Oct 11, 2018 (152)
63	ILLUMINA	ss3635306279	Oct 11, 2018 (152)
64	ILLUMINA	ss3636040195	Oct 11, 2018 (152)
65	ILLUMINA	ss3637056791	Oct 11, 2018 (152)
66	ILLUMINA	ss3640068683	Oct 11, 2018 (152)
67	ILLUMINA	ss3644512563	Oct 11, 2018 (152)
68	URBANLAB	ss3646832174	Oct 11, 2018 (152)
69	ILLUMINA	ss3651496063	Oct 11, 2018 (152)
70	EGCUT_WGS	ss3656001361	Jul 12, 2019 (153)
71	EVA_DECODE	ss3688145578	Jul 12, 2019 (153)
72	ILLUMINA	ss3725084892	Jul 12, 2019 (153)
73	ACPOP	ss3727647865	Jul 12, 2019 (153)
74	ILLUMINA	ss3744057140	Jul 12, 2019 (153)
75	ILLUMINA	ss3744662196	Jul 12, 2019 (153)
76	EVA	ss3747035985	Jul 12, 2019 (153)
77	PAGE_CC	ss3770856179	Jul 12, 2019 (153)
78	ILLUMINA	ss3772163218	Jul 12, 2019 (153)
79	KHV_HUMAN_GENOMES	ss3800036975	Jul 12, 2019 (153)
80	EVA	ss3826521337	Apr 25, 2020 (154)
81	EVA	ss3836657212	Apr 25, 2020 (154)
82	EVA	ss3842067469	Apr 25, 2020 (154)
83	SGDP_PRJ	ss3850389615	Apr 25, 2020 (154)
84	KRGDB	ss3895648026	Apr 25, 2020 (154)
85	KOGIC	ss3946019728	Apr 25, 2020 (154)
86	EVA	ss3984468061	Apr 25, 2021 (155)
87	EVA	ss4016949242	Apr 25, 2021 (155)
88	TOPMED	ss4474883042	Apr 25, 2021 (155)
89	TOMMO_GENOMICS	ss5147324312	Apr 25, 2021 (155)
90	1000G_HIGH_COVERAGE	ss5244938868	Oct 12, 2022 (156)
91	EVA	ss5314665263	Oct 12, 2022 (156)
92	EVA	ss5323232059	Oct 12, 2022 (156)
93	HUGCELL_USP	ss5445459314	Oct 12, 2022 (156)
94	EVA	ss5506098169	Oct 12, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5518593036	Oct 12, 2022 (156)
96	SANFORD_IMAGENETICS	ss5626959966	Oct 12, 2022 (156)
97	TOMMO_GENOMICS	ss5674766284	Oct 12, 2022 (156)
98	EVA	ss5799504837	Oct 12, 2022 (156)
99	YY_MCH	ss5801421285	Oct 12, 2022 (156)
100	EVA	ss5832921692	Oct 12, 2022 (156)
101	EVA	ss5847565073	Oct 12, 2022 (156)
102	EVA	ss5849182416	Oct 12, 2022 (156)
103	EVA	ss5910989524	Oct 12, 2022 (156)
104	EVA	ss5938773157	Oct 12, 2022 (156)
105	EVA	ss5980001964	Oct 12, 2022 (156)
106	1000Genomes	NC_000001.10 - 181506017	Oct 11, 2018 (152)
107	1000Genomes_30x	NC_000001.11 - 181536881	Oct 12, 2022 (156)
108	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 181506017	Oct 11, 2018 (152)
109	Genetic variation in the Estonian population	NC_000001.10 - 181506017	Oct 11, 2018 (152)
110	The Danish reference pan genome	NC_000001.10 - 181506017	Apr 25, 2020 (154)
111	gnomAD - Genomes	NC_000001.11 - 181536881	Apr 25, 2021 (155)
112	Genome of the Netherlands Release 5	NC_000001.10 - 181506017	Apr 25, 2020 (154)
113	HapMap	NC_000001.11 - 181536881	Apr 25, 2020 (154)
114	KOREAN population from KRGDB	NC_000001.10 - 181506017	Apr 25, 2020 (154)
115	Korean Genome Project	NC_000001.11 - 181536881	Apr 25, 2020 (154)
116	Northern Sweden	NC_000001.10 - 181506017	Jul 12, 2019 (153)
117	The PAGE Study	NC_000001.11 - 181536881	Jul 12, 2019 (153)
118	CNV burdens in cranial meningiomas	NC_000001.10 - 181506017	Apr 25, 2021 (155)
119	Qatari	NC_000001.10 - 181506017	Apr 25, 2020 (154)
120	SGDP_PRJ	NC_000001.10 - 181506017	Apr 25, 2020 (154)
121	Siberian	NC_000001.10 - 181506017	Apr 25, 2020 (154)
122	8.3KJPN	NC_000001.10 - 181506017	Apr 25, 2021 (155)
123	14KJPN	NC_000001.11 - 181536881	Oct 12, 2022 (156)
124	TopMed	NC_000001.11 - 181536881	Apr 25, 2021 (155)
125	UK 10K study - Twins	NC_000001.10 - 181506017	Oct 11, 2018 (152)
126	A Vietnamese Genetic Variation Database	NC_000001.10 - 181506017	Jul 12, 2019 (153)
127	ALFA	NC_000001.11 - 181536881	Apr 25, 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)
rs57638217	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss108749729, ss119117842, ss165513890, ss167337967, ss199320067, ss210684329, ss276123396, ss284185485, ss290675545, ss481235282, ss1585268715	NC_000001.9:179772639:T:C	NC_000001.11:181536880:T:C	(self)
4489925, 2459384, 1739609, 1784951, 1068399, 2825420, 932730, 17379, 1156988, 2406595, 617686, 5293619, 2459384, 527405, ss218751048, ss230805658, ss238436965, ss481258961, ss482245121, ss485413008, ss537346576, ss554916098, ss648538069, ss778567403, ss783151948, ss784107889, ss832411165, ss834024389, ss975878079, ss1068412264, ss1293671745, ss1426036319, ss1574517119, ss1601613183, ss1644607216, ss1751884969, ss1795362328, ss1919115058, ss1946016594, ss1958337157, ss1966912333, ss2020073632, ss2148101332, ss2624545245, ss2632600416, ss2698083098, ss2710687027, ss2763430159, ss2988052496, ss3021157241, ss3343798522, ss3625556296, ss3626254425, ss3630631810, ss3632917321, ss3633612987, ss3634361329, ss3635306279, ss3636040195, ss3637056791, ss3640068683, ss3644512563, ss3651496063, ss3656001361, ss3727647865, ss3744057140, ss3744662196, ss3747035985, ss3772163218, ss3826521337, ss3836657212, ss3850389615, ss3895648026, ss3984468061, ss4016949242, ss5147324312, ss5314665263, ss5323232059, ss5506098169, ss5626959966, ss5799504837, ss5832921692, ss5847565073, ss5938773157, ss5980001964	NC_000001.10:181506016:T:C	NC_000001.11:181536880:T:C	(self)
6118971, 32429527, 216312, 2397729, 77648, 8603388, 38489377, 10340976100, ss2168065612, ss3023796535, ss3646832174, ss3688145578, ss3725084892, ss3770856179, ss3800036975, ss3842067469, ss3946019728, ss4474883042, ss5244938868, ss5445459314, ss5518593036, ss5674766284, ss5801421285, ss5849182416, ss5910989524	NC_000001.11:181536880:T:C	NC_000001.11:181536880:T:C	(self)
ss9842373, ss11373019	NT_004487.15:10299053:T:C	NC_000001.11:181536880:T:C	(self)
ss23171004, ss80751896, ss144381283, ss160771732	NT_004487.19:32994658:T:C	NC_000001.11:181536880:T:C	(self)

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

No publications for rs6424814

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

rs6424814