rs119454947

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs119454947(A;A)

Make rs119454947(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1195503

Gene

CACNA1H

is a	snp
is	mentioned by
dbSNP	rs119454947
dbSNP (classic)	rs119454947
ClinGen	rs119454947
ebi	rs119454947
HLI	rs119454947
Exac	rs119454947
Gnomad	rs119454947
Varsome	rs119454947
LitVar	rs119454947
Map	rs119454947
PheGenI	rs119454947
Biobank	rs119454947
1000 genomes	rs119454947
hgdp	rs119454947
ensembl	rs119454947
geneview	rs119454947
scholar	rs119454947
google	rs119454947
pharmgkb	rs119454947
gwascentral	rs119454947
openSNP	rs119454947
23andMe	rs119454947
SNPshot	rs119454947
SNPdbe	rs119454947
MSV3d	rs119454947
GWAS Ctlg	rs119454947

Max Magnitude

0

OMIM	607904
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119454947(A;A) rs119454947(G;G) rs119454947(T;T)
Alt	rs119454947(A;A) rs119454947(G;G) rs119454947(T;T)
Reference	Rs119454947(C;C)
Significance	Other
Disease	Epilepsy
Variation	info
Gene	CACNA1H
CLNDBN	Epilepsy, childhood absence 6
Reversed	0
HGVS	NC_000016.9:g.1245503C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002820.2,