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rs797045390

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045390(A;A)
Make rs797045390(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78042726
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045390
ebirs797045390
HLIrs797045390
Exacrs797045390
Varsomers797045390
Maprs797045390
PheGenIrs797045390
hapmaprs797045390
1000 genomesrs797045390
hgdprs797045390
ensemblrs797045390
gopubmedrs797045390
geneviewrs797045390
scholarrs797045390
googlers797045390
pharmgkbrs797045390
gwascentralrs797045390
openSNPrs797045390
23andMers797045390
23andMe allrs797045390
SNP Nexus

SNPshotrs797045390
SNPdbers797045390
MSV3drs797045390
GWAS Ctlgrs797045390
Max Magnitude0
ClinVar
Risk rs797045390(A;A)
Alt rs797045390(A;A)
Reference rs797045390(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.77298224G>A
CLNSRC
CLNACC RCV000192535.1,