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rs797045351

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045351(A;A)
Make rs797045351(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78012893
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045351
ebirs797045351
HLIrs797045351
Exacrs797045351
Varsomers797045351
Maprs797045351
PheGenIrs797045351
hapmaprs797045351
1000 genomesrs797045351
hgdprs797045351
ensemblrs797045351
gopubmedrs797045351
geneviewrs797045351
scholarrs797045351
googlers797045351
pharmgkbrs797045351
gwascentralrs797045351
openSNPrs797045351
23andMers797045351
23andMe allrs797045351
SNP Nexus

SNPshotrs797045351
SNPdbers797045351
MSV3drs797045351
GWAS Ctlgrs797045351
Max Magnitude0
ClinVar
Risk rs797045351(A;A)
Alt rs797045351(A;A)
Reference rs797045351(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.77268390G>A
CLNSRC
CLNACC RCV000194105.1,