rs104894354

Orientation

plus

Stabilized

plus

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

Make rs104894354(A;G)

Make rs104894354(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912054

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894354
dbSNP (classic)	rs104894354
ClinGen	rs104894354
ebi	rs104894354
HLI	rs104894354
Exac	rs104894354
Gnomad	rs104894354
Varsome	rs104894354
LitVar	rs104894354
Map	rs104894354
PheGenI	rs104894354
Biobank	rs104894354
1000 genomes	rs104894354
hgdp	rs104894354
ensembl	rs104894354
geneview	rs104894354
scholar	rs104894354
google	rs104894354
pharmgkb	rs104894354
gwascentral	rs104894354
openSNP	rs104894354
23andMe	rs104894354
SNPshot	rs104894354
SNPdbe	rs104894354
MSV3d	rs104894354
GWAS Ctlg	rs104894354

Max Magnitude

0

OMIM	176260
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894354(G;G)
Alt	rs104894354(G;G)
Reference	Rs104894354(A;A)
Significance	Pathogenic
Disease	Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021220A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014430.17,