rs104894356

Orientation

plus

Stabilized

plus

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

Make rs104894356(A;A)

Make rs104894356(A;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912123

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs104894356
dbSNP (classic)	rs104894356
ClinGen	rs104894356
ebi	rs104894356
HLI	rs104894356
Exac	rs104894356
Gnomad	rs104894356
Varsome	rs104894356
LitVar	rs104894356
Map	rs104894356
PheGenI	rs104894356
Biobank	rs104894356
1000 genomes	rs104894356
hgdp	rs104894356
ensembl	rs104894356
geneview	rs104894356
scholar	rs104894356
google	rs104894356
pharmgkb	rs104894356
gwascentral	rs104894356
openSNP	rs104894356
23andMe	rs104894356
SNPshot	rs104894356
SNPdbe	rs104894356
MSV3d	rs104894356
GWAS Ctlg	rs104894356

Max Magnitude

0

OMIM	176260
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894356(A;A)
Alt	rs104894356(A;A)
Reference	Rs104894356(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.5021289T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014427.17,