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

rs151340632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs151340632(A;G)
Make rs151340632(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78042694
GeneATP7A
is asnp
is mentioned by
dbSNPrs151340632
ebirs151340632
HLIrs151340632
Exacrs151340632
Varsomers151340632
Maprs151340632
PheGenIrs151340632
hapmaprs151340632
1000 genomesrs151340632
hgdprs151340632
ensemblrs151340632
gopubmedrs151340632
geneviewrs151340632
scholarrs151340632
googlers151340632
pharmgkbrs151340632
gwascentralrs151340632
openSNPrs151340632
23andMers151340632
23andMe allrs151340632
SNP Nexus

SNPshotrs151340632
SNPdbers151340632
MSV3drs151340632
GWAS Ctlgrs151340632
Max Magnitude0
ClinVar
Risk rs151340632(G;G)
Alt rs151340632(G;G)
Reference rs151340632(A;A)
Significance Pathogenic
Disease Cutis laxa Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Cutis laxa, X-linked Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77298192A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012559.22, RCV000194377.1,