rs113994117

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs113994117(G;T)

Make rs113994117(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912600

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs113994117
dbSNP (classic)	rs113994117
ClinGen	rs113994117
ebi	rs113994117
HLI	rs113994117
Exac	rs113994117
Gnomad	rs113994117
Varsome	rs113994117
LitVar	rs113994117
Map	rs113994117
PheGenI	rs113994117
Biobank	rs113994117
1000 genomes	rs113994117
hgdp	rs113994117
ensembl	rs113994117
geneview	rs113994117
scholar	rs113994117
google	rs113994117
pharmgkb	rs113994117
gwascentral	rs113994117
openSNP	rs113994117
23andMe	rs113994117
SNPshot	rs113994117
SNPdbe	rs113994117
MSV3d	rs113994117
GWAS Ctlg	rs113994117

Max Magnitude

0

ClinVar
Risk	rs113994117(A;A) rs113994117(T;T)
Alt	rs113994117(A;A) rs113994117(T;T)
Reference	Rs113994117(G;G)
Significance	Pathogenic
Disease	not specified Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	not specified Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021766G>A; NC_000012.11:g.5021766G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000293427.1, RCV000020217.1,

OMIM	160120
Desc
Variant
Related	also