rs104894352

Orientation

plus

Stabilized

plus

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

Make rs104894352(C;C)

Make rs104894352(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912601

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894352
dbSNP (classic)	rs104894352
ClinGen	rs104894352
ebi	rs104894352
HLI	rs104894352
Exac	rs104894352
Gnomad	rs104894352
Varsome	rs104894352
LitVar	rs104894352
Map	rs104894352
PheGenI	rs104894352
Biobank	rs104894352
1000 genomes	rs104894352
hgdp	rs104894352
ensembl	rs104894352
geneview	rs104894352
scholar	rs104894352
google	rs104894352
pharmgkb	rs104894352
gwascentral	rs104894352
openSNP	rs104894352
23andMe	rs104894352
SNPshot	rs104894352
SNPdbe	rs104894352
MSV3d	rs104894352
GWAS Ctlg	rs104894352

Max Magnitude

0

OMIM	176260
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894352(C;C)
Alt	rs104894352(C;C)
Reference	Rs104894352(T;T)
Significance	Pathogenic
Disease	Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021767T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014424.25,