rs587777771

Orientation

plus

Stabilized

plus

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

Make rs587777771(C;T)

Make rs587777771(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

41970275

Gene

ATP1A3

is a	snp
is	mentioned by
dbSNP	rs587777771
dbSNP (classic)	rs587777771
ClinGen	rs587777771
ebi	rs587777771
HLI	rs587777771
Exac	rs587777771
Gnomad	rs587777771
Varsome	rs587777771
LitVar	rs587777771
Map	rs587777771
PheGenI	rs587777771
Biobank	rs587777771
1000 genomes	rs587777771
hgdp	rs587777771
ensembl	rs587777771
geneview	rs587777771
scholar	rs587777771
google	rs587777771
pharmgkb	rs587777771
gwascentral	rs587777771
openSNP	rs587777771
23andMe	rs587777771
SNPshot	rs587777771
SNPdbe	rs587777771
MSV3d	rs587777771
GWAS Ctlg	rs587777771

Max Magnitude

0

ClinVar
Risk	rs587777771(T;T)
Alt	rs587777771(T;T)
Reference	Rs587777771(C;C)
Significance	Pathogenic
Disease	Cerebellar ataxia Inborn genetic diseases Alternating hemiplegia of childhood 2 Dystonia 12 not provided
Variation	info
Gene	ATP1A3
CLNDBN	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Inborn genetic diseases Alternating hemiplegia of childhood 2 Dystonia 12 not provided
Reversed	0
HGVS	NC_000019.9:g.42474427C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144250.5, RCV000190725.1, RCV000195001.1, RCV000234480.1, RCV000314245.1,