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rs797045388

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045388(C;G)
Make rs797045388(G;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78042703
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045388
ebirs797045388
HLIrs797045388
Exacrs797045388
Varsomers797045388
Maprs797045388
PheGenIrs797045388
hapmaprs797045388
1000 genomesrs797045388
hgdprs797045388
ensemblrs797045388
gopubmedrs797045388
geneviewrs797045388
scholarrs797045388
googlers797045388
pharmgkbrs797045388
gwascentralrs797045388
openSNPrs797045388
23andMers797045388
23andMe allrs797045388
SNP Nexus

SNPshotrs797045388
SNPdbers797045388
MSV3drs797045388
GWAS Ctlgrs797045388
Max Magnitude0
ClinVar
Risk rs797045388(G;G)
Alt rs797045388(G;G)
Reference rs797045388(C;C)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77298201C>G
CLNSRC
CLNACC RCV000192416.1,