rs113994120

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTT;CTT)	0	common in clinvar
(TTC;TTC)	0	common in clinvar

Make rs113994120(-;-)

Make rs113994120(-;TTC)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912126

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs113994120
dbSNP (classic)	rs113994120
ClinGen	rs113994120
ebi	rs113994120
HLI	rs113994120
Exac	rs113994120
Gnomad	rs113994120
Varsome	rs113994120
LitVar	rs113994120
Map	rs113994120
PheGenI	rs113994120
Biobank	rs113994120
1000 genomes	rs113994120
hgdp	rs113994120
ensembl	rs113994120
geneview	rs113994120
scholar	rs113994120
google	rs113994120
pharmgkb	rs113994120
gwascentral	rs113994120
openSNP	rs113994120
23andMe	rs113994120
SNPshot	rs113994120
SNPdbe	rs113994120
MSV3d	rs113994120
GWAS Ctlg	rs113994120

Max Magnitude

0

ClinVar
Risk	rs113994120(-;-)
Alt	rs113994120(-;-)
Reference	Rs113994120(CTT;CTT)
Significance	Pathogenic
Disease	Episodic ataxia type 1
Variation	info
Gene	KCNA1
CLNDBN	Episodic ataxia type 1
Reversed	0
HGVS	NC_000012.11:g.5021292_5021294delTTC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020221.1,

OMIM	160120
Desc
Variant
Related	also