rs104894355

Orientation

plus

Stabilized

plus

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

Make rs104894355(A;A)

Make rs104894355(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912588

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894355
dbSNP (classic)	rs104894355
ClinGen	rs104894355
ebi	rs104894355
HLI	rs104894355
Exac	rs104894355
Gnomad	rs104894355
Varsome	rs104894355
LitVar	rs104894355
Map	rs104894355
PheGenI	rs104894355
Biobank	rs104894355
1000 genomes	rs104894355
hgdp	rs104894355
ensembl	rs104894355
geneview	rs104894355
scholar	rs104894355
google	rs104894355
pharmgkb	rs104894355
gwascentral	rs104894355
openSNP	rs104894355
23andMe	rs104894355
SNPshot	rs104894355
SNPdbe	rs104894355
MSV3d	rs104894355
GWAS Ctlg	rs104894355

Max Magnitude

0

OMIM	176260
Desc
Variant	0008
Related	also

ClinVar
Risk	rs104894355(A;A)
Alt	rs104894355(A;A)
Reference	Rs104894355(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.5021754G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014431.17,