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rs797045386

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045386(G;T)
Make rs797045386(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78040734
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045386
ebirs797045386
HLIrs797045386
Exacrs797045386
Varsomers797045386
Maprs797045386
PheGenIrs797045386
hapmaprs797045386
1000 genomesrs797045386
hgdprs797045386
ensemblrs797045386
gopubmedrs797045386
geneviewrs797045386
scholarrs797045386
googlers797045386
pharmgkbrs797045386
gwascentralrs797045386
openSNPrs797045386
23andMers797045386
23andMe allrs797045386
SNP Nexus

SNPshotrs797045386
SNPdbers797045386
MSV3drs797045386
GWAS Ctlgrs797045386
Max Magnitude0
ClinVar
Risk rs797045386(T;T)
Alt rs797045386(T;T)
Reference rs797045386(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.77296232G>T
CLNSRC
CLNACC RCV000194924.1,