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rs797045378

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045378(C;T)
Make rs797045378(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78033776
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045378
ebirs797045378
HLIrs797045378
Exacrs797045378
Varsomers797045378
Maprs797045378
PheGenIrs797045378
hapmaprs797045378
1000 genomesrs797045378
hgdprs797045378
ensemblrs797045378
gopubmedrs797045378
geneviewrs797045378
scholarrs797045378
googlers797045378
pharmgkbrs797045378
gwascentralrs797045378
openSNPrs797045378
23andMers797045378
23andMe allrs797045378
SNP Nexus

SNPshotrs797045378
SNPdbers797045378
MSV3drs797045378
GWAS Ctlgrs797045378
Max Magnitude0
ClinVar
Risk rs797045378(T;T)
Alt rs797045378(T;T)
Reference rs797045378(C;C)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77289274C>T
CLNSRC
CLNACC RCV000194826.1,