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rs797045365

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045365(C;T)
Make rs797045365(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78029335
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045365
ebirs797045365
HLIrs797045365
Exacrs797045365
Varsomers797045365
Maprs797045365
PheGenIrs797045365
hapmaprs797045365
1000 genomesrs797045365
hgdprs797045365
ensemblrs797045365
gopubmedrs797045365
geneviewrs797045365
scholarrs797045365
googlers797045365
pharmgkbrs797045365
gwascentralrs797045365
openSNPrs797045365
23andMers797045365
23andMe allrs797045365
SNP Nexus

SNPshotrs797045365
SNPdbers797045365
MSV3drs797045365
GWAS Ctlgrs797045365
Max Magnitude0
ClinVar
Risk rs797045365(T;T)
Alt rs797045365(T;T)
Reference rs797045365(C;C)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77284832C>T
CLNSRC
CLNACC RCV000194077.1,