rs104894358

Orientation

plus

Stabilized

plus

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

Make rs104894358(C;T)

Make rs104894358(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912627

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894358
dbSNP (classic)	rs104894358
ClinGen	rs104894358
ebi	rs104894358
HLI	rs104894358
Exac	rs104894358
Gnomad	rs104894358
Varsome	rs104894358
LitVar	rs104894358
Map	rs104894358
PheGenI	rs104894358
Biobank	rs104894358
1000 genomes	rs104894358
hgdp	rs104894358
ensembl	rs104894358
geneview	rs104894358
scholar	rs104894358
google	rs104894358
pharmgkb	rs104894358
gwascentral	rs104894358
openSNP	rs104894358
23andMe	rs104894358
SNPshot	rs104894358
SNPdbe	rs104894358
MSV3d	rs104894358
GWAS Ctlg	rs104894358

Max Magnitude

0

OMIM	176260
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104894358(T;T)
Alt	rs104894358(T;T)
Reference	Rs104894358(C;C)
Significance	Pathogenic
Disease	Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021793C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014435.26,