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rs797045346

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045346(A;A)
Make rs797045346(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011662
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045346
ebirs797045346
HLIrs797045346
Exacrs797045346
Varsomers797045346
Maprs797045346
PheGenIrs797045346
hapmaprs797045346
1000 genomesrs797045346
hgdprs797045346
ensemblrs797045346
gopubmedrs797045346
geneviewrs797045346
scholarrs797045346
googlers797045346
pharmgkbrs797045346
gwascentralrs797045346
openSNPrs797045346
23andMers797045346
23andMe allrs797045346
SNP Nexus

SNPshotrs797045346
SNPdbers797045346
MSV3drs797045346
GWAS Ctlgrs797045346
Max Magnitude0
ClinVar
Risk rs797045346(A;A)
Alt rs797045346(A;A)
Reference rs797045346(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.77267159T>A
CLNSRC
CLNACC RCV000193010.1,