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rs797045393

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045393(A;A)
Make rs797045393(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78043435
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045393
ebirs797045393
HLIrs797045393
Exacrs797045393
Varsomers797045393
Maprs797045393
PheGenIrs797045393
hapmaprs797045393
1000 genomesrs797045393
hgdprs797045393
ensemblrs797045393
gopubmedrs797045393
geneviewrs797045393
scholarrs797045393
googlers797045393
pharmgkbrs797045393
gwascentralrs797045393
openSNPrs797045393
23andMers797045393
23andMe allrs797045393
SNP Nexus

SNPshotrs797045393
SNPdbers797045393
MSV3drs797045393
GWAS Ctlgrs797045393
Max Magnitude0
ClinVar
Risk rs797045393(A;A)
Alt rs797045393(A;A)
Reference rs797045393(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.77298933G>A
CLNSRC
CLNACC RCV000193682.1,