rs863224847

Orientation

minus

Stabilized

minus

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

Make rs863224847(A;A)

Make rs863224847(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41984937

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs863224847
dbSNP (classic)	rs863224847
ClinGen	rs863224847
ebi	rs863224847
HLI	rs863224847
Exac	rs863224847
Gnomad	rs863224847
Varsome	rs863224847
LitVar	rs863224847
Map	rs863224847
PheGenI	rs863224847
Biobank	rs863224847
1000 genomes	rs863224847
hgdp	rs863224847
ensembl	rs863224847
geneview	rs863224847
scholar	rs863224847
google	rs863224847
pharmgkb	rs863224847
gwascentral	rs863224847
openSNP	rs863224847
23andMe	rs863224847
SNPshot	rs863224847
SNPdbe	rs863224847
MSV3d	rs863224847
GWAS Ctlg	rs863224847

Max Magnitude

0

ClinVar
Risk	rs863224847(A;A)
Alt	rs863224847(A;A)
Reference	Rs863224847(G;G)
Significance	Probable-Pathogenic
Disease	Cerebellar ataxia
Variation	info
Gene	ATP1A3
CLNDBN	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Reversed	1
HGVS	NC_000019.9:g.42489089C>T
CLNSRC
CLNACC	RCV000199314.1,