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rs797045338

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045338(C;C)
Make rs797045338(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011175
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045338
ebirs797045338
HLIrs797045338
Exacrs797045338
Varsomers797045338
Maprs797045338
PheGenIrs797045338
hapmaprs797045338
1000 genomesrs797045338
hgdprs797045338
ensemblrs797045338
gopubmedrs797045338
geneviewrs797045338
scholarrs797045338
googlers797045338
pharmgkbrs797045338
gwascentralrs797045338
openSNPrs797045338
23andMers797045338
23andMe allrs797045338
SNP Nexus

SNPshotrs797045338
SNPdbers797045338
MSV3drs797045338
GWAS Ctlgrs797045338
Max Magnitude0
ClinVar
Risk rs797045338(C;C)
Alt rs797045338(C;C)
Reference rs797045338(G;G)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77266672G>C
CLNSRC
CLNACC RCV000195126.1,