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rs797045350

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045350(A;A)
Make rs797045350(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78012889
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045350
ebirs797045350
HLIrs797045350
Exacrs797045350
Varsomers797045350
Maprs797045350
PheGenIrs797045350
hapmaprs797045350
1000 genomesrs797045350
hgdprs797045350
ensemblrs797045350
gopubmedrs797045350
geneviewrs797045350
scholarrs797045350
googlers797045350
pharmgkbrs797045350
gwascentralrs797045350
openSNPrs797045350
23andMers797045350
23andMe allrs797045350
SNP Nexus

SNPshotrs797045350
SNPdbers797045350
MSV3drs797045350
GWAS Ctlgrs797045350
Max Magnitude0
ClinVar
Risk rs797045350(A;A)
Alt rs797045350(A;A)
Reference rs797045350(G;G)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268386G>A
CLNSRC
CLNACC RCV000193058.1,