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rs797045373

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045373(A;A)
Make rs797045373(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78031576
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045373
ebirs797045373
HLIrs797045373
Exacrs797045373
Varsomers797045373
Maprs797045373
PheGenIrs797045373
hapmaprs797045373
1000 genomesrs797045373
hgdprs797045373
ensemblrs797045373
gopubmedrs797045373
geneviewrs797045373
scholarrs797045373
googlers797045373
pharmgkbrs797045373
gwascentralrs797045373
openSNPrs797045373
23andMers797045373
23andMe allrs797045373
SNP Nexus

SNPshotrs797045373
SNPdbers797045373
MSV3drs797045373
GWAS Ctlgrs797045373
Max Magnitude0
ClinVar
Risk rs797045373(A;A)
Alt rs797045373(A;A)
Reference rs797045373(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.77287074C>A
CLNSRC
CLNACC RCV000194181.1,