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rs797045385

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045385(A;T)
Make rs797045385(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78040732
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045385
ebirs797045385
HLIrs797045385
Exacrs797045385
Varsomers797045385
Maprs797045385
PheGenIrs797045385
hapmaprs797045385
1000 genomesrs797045385
hgdprs797045385
ensemblrs797045385
gopubmedrs797045385
geneviewrs797045385
scholarrs797045385
googlers797045385
pharmgkbrs797045385
gwascentralrs797045385
openSNPrs797045385
23andMers797045385
23andMe allrs797045385
SNP Nexus

SNPshotrs797045385
SNPdbers797045385
MSV3drs797045385
GWAS Ctlgrs797045385
Max Magnitude0
ClinVar
Risk rs797045385(T;T)
Alt rs797045385(T;T)
Reference rs797045385(A;A)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77296230A>T
CLNSRC
CLNACC RCV000194316.1,