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rs797045398

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045398(A;A)
Make rs797045398(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78045577
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045398
ebirs797045398
HLIrs797045398
Exacrs797045398
Varsomers797045398
Maprs797045398
PheGenIrs797045398
hapmaprs797045398
1000 genomesrs797045398
hgdprs797045398
ensemblrs797045398
gopubmedrs797045398
geneviewrs797045398
scholarrs797045398
googlers797045398
pharmgkbrs797045398
gwascentralrs797045398
openSNPrs797045398
23andMers797045398
23andMe allrs797045398
SNP Nexus

SNPshotrs797045398
SNPdbers797045398
MSV3drs797045398
GWAS Ctlgrs797045398
Max Magnitude0
ClinVar
Risk rs797045398(A;A)
Alt rs797045398(A;A)
Reference rs797045398(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.77301074G>A
CLNSRC
CLNACC RCV000194120.1,