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rs797045342

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045342(A;A)
Make rs797045342(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011452
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045342
ebirs797045342
HLIrs797045342
Exacrs797045342
Varsomers797045342
Maprs797045342
PheGenIrs797045342
hapmaprs797045342
1000 genomesrs797045342
hgdprs797045342
ensemblrs797045342
gopubmedrs797045342
geneviewrs797045342
scholarrs797045342
googlers797045342
pharmgkbrs797045342
gwascentralrs797045342
openSNPrs797045342
23andMers797045342
23andMe allrs797045342
SNP Nexus

SNPshotrs797045342
SNPdbers797045342
MSV3drs797045342
GWAS Ctlgrs797045342
Max Magnitude0
ClinVar
Risk rs797045342(A;A)
Alt rs797045342(A;A)
Reference rs797045342(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.77266949G>A
CLNSRC
CLNACC RCV000194429.1,