rs119454948

Orientation

plus

Stabilized

plus

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

Make rs119454948(A;A)

Make rs119454948(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1200296

Gene

CACNA1H

is a	snp
is	mentioned by
dbSNP	rs119454948
dbSNP (classic)	rs119454948
ClinGen	rs119454948
ebi	rs119454948
HLI	rs119454948
Exac	rs119454948
Gnomad	rs119454948
Varsome	rs119454948
LitVar	rs119454948
Map	rs119454948
PheGenI	rs119454948
Biobank	rs119454948
1000 genomes	rs119454948
hgdp	rs119454948
ensembl	rs119454948
geneview	rs119454948
scholar	rs119454948
google	rs119454948
pharmgkb	rs119454948
gwascentral	rs119454948
openSNP	rs119454948
23andMe	rs119454948
SNPshot	rs119454948
SNPdbe	rs119454948
MSV3d	rs119454948
GWAS Ctlg	rs119454948

Max Magnitude

0

OMIM	607904
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119454948(A;A)
Alt	rs119454948(A;A)
Reference	Rs119454948(G;G)
Significance	Other
Disease	Epilepsy
Variation	info
Gene	CACNA1H
CLNDBN	Epilepsy, childhood absence 6
Reversed	0
HGVS	NC_000016.9:g.1250296G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002821.2,