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

rs151340633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151340633(C;T)
Make rs151340633(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position77988722
GeneATP7A
is asnp
is mentioned by
dbSNPrs151340633
ebirs151340633
HLIrs151340633
Exacrs151340633
Varsomers151340633
Maprs151340633
PheGenIrs151340633
hapmaprs151340633
1000 genomesrs151340633
hgdprs151340633
ensemblrs151340633
gopubmedrs151340633
geneviewrs151340633
scholarrs151340633
googlers151340633
pharmgkbrs151340633
gwascentralrs151340633
openSNPrs151340633
23andMers151340633
23andMe allrs151340633
SNP Nexus

SNPshotrs151340633
SNPdbers151340633
MSV3drs151340633
GWAS Ctlgrs151340633
Max Magnitude0
ClinVar
Risk rs151340633(T;T)
Alt rs151340633(T;T)
Reference rs151340633(C;C)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77244218C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012560.15,