rs104894348

Orientation

plus

Stabilized

plus

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

Make rs104894348(A;A)

Make rs104894348(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912093

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894348
dbSNP (classic)	rs104894348
ClinGen	rs104894348
ebi	rs104894348
HLI	rs104894348
Exac	rs104894348
Gnomad	rs104894348
Varsome	rs104894348
LitVar	rs104894348
Map	rs104894348
PheGenI	rs104894348
Biobank	rs104894348
1000 genomes	rs104894348
hgdp	rs104894348
ensembl	rs104894348
geneview	rs104894348
scholar	rs104894348
google	rs104894348
pharmgkb	rs104894348
gwascentral	rs104894348
openSNP	rs104894348
23andMe	rs104894348
SNPshot	rs104894348
SNPdbe	rs104894348
MSV3d	rs104894348
GWAS Ctlg	rs104894348

Max Magnitude

0

OMIM	176260
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894348(A;A)
Alt	rs104894348(A;A)
Reference	Rs104894348(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.5021259C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014425.25,