rs104894357

Orientation

plus

Stabilized

plus

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

Make rs104894357(G;G)

Make rs104894357(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4911929

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894357
dbSNP (classic)	rs104894357
ClinGen	rs104894357
ebi	rs104894357
HLI	rs104894357
Exac	rs104894357
Gnomad	rs104894357
Varsome	rs104894357
LitVar	rs104894357
Map	rs104894357
PheGenI	rs104894357
Biobank	rs104894357
1000 genomes	rs104894357
hgdp	rs104894357
ensembl	rs104894357
geneview	rs104894357
scholar	rs104894357
google	rs104894357
pharmgkb	rs104894357
gwascentral	rs104894357
openSNP	rs104894357
23andMe	rs104894357
SNPshot	rs104894357
SNPdbe	rs104894357
MSV3d	rs104894357
GWAS Ctlg	rs104894357

Max Magnitude

0

OMIM	176260
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894357(G;G)
Alt	rs104894357(G;G)
Reference	Rs104894357(T;T)
Significance	Pathogenic
Disease	Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021095T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014428.25,