rs104894353

plus

Geno	Mag	Summary
(C;G)	5.8	Episodic ataxia, type 1
(G;G)	0	common in clinvar

Make rs104894353(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912353

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894353
dbSNP (classic)	rs104894353
ClinGen	rs104894353
ebi	rs104894353
HLI	rs104894353
Exac	rs104894353
Gnomad	rs104894353
Varsome	rs104894353
LitVar	rs104894353
Map	rs104894353
PheGenI	rs104894353
Biobank	rs104894353
1000 genomes	rs104894353
hgdp	rs104894353
ensembl	rs104894353
geneview	rs104894353
scholar	rs104894353
google	rs104894353
pharmgkb	rs104894353
gwascentral	rs104894353
openSNP	rs104894353
23andMe	rs104894353
SNPshot	rs104894353
SNPdbe	rs104894353
MSV3d	rs104894353
GWAS Ctlg	rs104894353

Max Magnitude

5.8

aka c.975G>C (p.Glu325Asp or E325D)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 1

See also OMIM 176260.0006

OMIM	176260
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894353(C;C)
Alt	rs104894353(C;C)
Reference	Rs104894353(G;G)
Significance	Pathogenic
Disease	Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021519G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014429.26,