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rs151340631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151340631(C;T)
Make rs151340631(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position78011216
GeneATP7A
is asnp
is mentioned by
dbSNPrs151340631
ebirs151340631
HLIrs151340631
Exacrs151340631
Varsomers151340631
Maprs151340631
PheGenIrs151340631
hapmaprs151340631
1000 genomesrs151340631
hgdprs151340631
ensemblrs151340631
gopubmedrs151340631
geneviewrs151340631
scholarrs151340631
googlers151340631
pharmgkbrs151340631
gwascentralrs151340631
openSNPrs151340631
23andMers151340631
23andMe allrs151340631
SNP Nexus

SNPshotrs151340631
SNPdbers151340631
MSV3drs151340631
GWAS Ctlgrs151340631
Merged fromRs28936068
Max Magnitude0
ClinVar
Risk rs151340631(G,T;G,T)
Alt rs151340631(G,T;G,T)
Reference rs151340631(C;C)
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.77266713C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012549.16, RCV000195239.1,