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rs797045359

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045359(A;A)
Make rs797045359(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78015753
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045359
ebirs797045359
HLIrs797045359
Exacrs797045359
Varsomers797045359
Maprs797045359
PheGenIrs797045359
hapmaprs797045359
1000 genomesrs797045359
hgdprs797045359
ensemblrs797045359
gopubmedrs797045359
geneviewrs797045359
scholarrs797045359
googlers797045359
pharmgkbrs797045359
gwascentralrs797045359
openSNPrs797045359
23andMers797045359
23andMe allrs797045359
SNP Nexus

SNPshotrs797045359
SNPdbers797045359
MSV3drs797045359
GWAS Ctlgrs797045359
Max Magnitude0
ClinVar
Risk rs797045359(A;A)
Alt rs797045359(A;A)
Reference rs797045359(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.77271250G>A
CLNSRC
CLNACC RCV000193736.1,