rs546968533

Orientation

plus

Stabilized

plus

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

Make rs546968533(C;G)

Make rs546968533(G;G)

Reference

GRCh38 38.1/142

Chromosome

13

Position

25553863

Gene

ATP8A2

is a	snp
is	mentioned by
dbSNP	rs546968533
dbSNP (classic)	rs546968533
ClinGen	rs546968533
ebi	rs546968533
HLI	rs546968533
Exac	rs546968533
Gnomad	rs546968533
Varsome	rs546968533
LitVar	rs546968533
Map	rs546968533
PheGenI	rs546968533
Biobank	rs546968533
1000 genomes	rs546968533
hgdp	rs546968533
ensembl	rs546968533
geneview	rs546968533
scholar	rs546968533
google	rs546968533
pharmgkb	rs546968533
gwascentral	rs546968533
openSNP	rs546968533
23andMe	rs546968533
SNPshot	rs546968533
SNPdbe	rs546968533
MSV3d	rs546968533
GWAS Ctlg	rs546968533

Max Magnitude

0

ClinVar
Risk	rs546968533(G;G) rs546968533(T;T)
Alt	rs546968533(G;G) rs546968533(T;T)
Reference	Rs546968533(C;C)
Significance	Pathogenic
Disease	Cerebellar ataxia
Variation	info
Gene	ATP8A2
CLNDBN	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Reversed	0
HGVS	NC_000013.10:g.26128001C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043652.2,