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rs797045372

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045372(G;G)
Make rs797045372(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78031573
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045372
ebirs797045372
HLIrs797045372
Exacrs797045372
Varsomers797045372
Maprs797045372
PheGenIrs797045372
hapmaprs797045372
1000 genomesrs797045372
hgdprs797045372
ensemblrs797045372
gopubmedrs797045372
geneviewrs797045372
scholarrs797045372
googlers797045372
pharmgkbrs797045372
gwascentralrs797045372
openSNPrs797045372
23andMers797045372
23andMe allrs797045372
SNP Nexus

SNPshotrs797045372
SNPdbers797045372
MSV3drs797045372
GWAS Ctlgrs797045372
Max Magnitude0
ClinVar
Risk rs797045372(G;G)
Alt rs797045372(G;G)
Reference rs797045372(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77287071T>G
CLNSRC
CLNACC RCV000193509.1,