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rs797045382

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045382(A;A)
Make rs797045382(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78040696
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045382
ebirs797045382
HLIrs797045382
Exacrs797045382
Varsomers797045382
Maprs797045382
PheGenIrs797045382
hapmaprs797045382
1000 genomesrs797045382
hgdprs797045382
ensemblrs797045382
gopubmedrs797045382
geneviewrs797045382
scholarrs797045382
googlers797045382
pharmgkbrs797045382
gwascentralrs797045382
openSNPrs797045382
23andMers797045382
23andMe allrs797045382
SNP Nexus

SNPshotrs797045382
SNPdbers797045382
MSV3drs797045382
GWAS Ctlgrs797045382
Max Magnitude0
ClinVar
Risk rs797045382(A;A)
Alt rs797045382(A;A)
Reference rs797045382(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.77296194G>A
CLNSRC
CLNACC RCV000193824.1,