rs104894349

Orientation

plus

Stabilized

plus

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

Make rs104894349(G;T)

Make rs104894349(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4911898

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894349
dbSNP (classic)	rs104894349
ClinGen	rs104894349
ebi	rs104894349
HLI	rs104894349
Exac	rs104894349
Gnomad	rs104894349
Varsome	rs104894349
LitVar	rs104894349
Map	rs104894349
PheGenI	rs104894349
Biobank	rs104894349
1000 genomes	rs104894349
hgdp	rs104894349
ensembl	rs104894349
geneview	rs104894349
scholar	rs104894349
google	rs104894349
pharmgkb	rs104894349
gwascentral	rs104894349
openSNP	rs104894349
23andMe	rs104894349
SNPshot	rs104894349
SNPdbe	rs104894349
MSV3d	rs104894349
GWAS Ctlg	rs104894349

Max Magnitude

0

OMIM	176260
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894349(T;T)
Alt	rs104894349(T;T)
Reference	Rs104894349(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.5021064G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014426.17,