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

rs397518480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518480(C;T)
Make rs397518480(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position40597293
GeneATP6AP2
is asnp
is mentioned by
dbSNPrs397518480
ebirs397518480
HLIrs397518480
Exacrs397518480
Varsomers397518480
Maprs397518480
PheGenIrs397518480
hapmaprs397518480
1000 genomesrs397518480
hgdprs397518480
ensemblrs397518480
gopubmedrs397518480
geneviewrs397518480
scholarrs397518480
googlers397518480
pharmgkbrs397518480
gwascentralrs397518480
openSNPrs397518480
23andMers397518480
23andMe allrs397518480
SNP Nexus

SNPshotrs397518480
SNPdbers397518480
MSV3drs397518480
GWAS Ctlgrs397518480
Max Magnitude0
ClinVar
Risk rs397518480(T;T)
Alt rs397518480(T;T)
Reference rs397518480(C;C)
Significance Pathogenic
Disease Parkinsonism with spasticity
Variation info
Gene ATP6AP2
CLNDBN Parkinsonism with spasticity, X-linked
Reversed 0
HGVS NC_000023.10:g.40456545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074407.9,