Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777771(C;T)
Make rs587777771(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position41970275
GeneATP1A3
is asnp
is mentioned by
dbSNPrs587777771
ebirs587777771
HLIrs587777771
Exacrs587777771
Varsomers587777771
Maprs587777771
PheGenIrs587777771
hapmaprs587777771
1000 genomesrs587777771
hgdprs587777771
ensemblrs587777771
gopubmedrs587777771
geneviewrs587777771
scholarrs587777771
googlers587777771
pharmgkbrs587777771
gwascentralrs587777771
openSNPrs587777771
23andMers587777771
23andMe allrs587777771
SNP Nexus

SNPshotrs587777771
SNPdbers587777771
MSV3drs587777771
GWAS Ctlgrs587777771
Max Magnitude0
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
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
Reversed 0
HGVS NC_000019.9:g.42474427C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144250.4, RCV000190725.1, RCV000195001.1, RCV000234480.1,