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rs797045337

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045337(G;T)
Make rs797045337(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78009225
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045337
ebirs797045337
HLIrs797045337
Exacrs797045337
Varsomers797045337
Maprs797045337
PheGenIrs797045337
hapmaprs797045337
1000 genomesrs797045337
hgdprs797045337
ensemblrs797045337
gopubmedrs797045337
geneviewrs797045337
scholarrs797045337
googlers797045337
pharmgkbrs797045337
gwascentralrs797045337
openSNPrs797045337
23andMers797045337
23andMe allrs797045337
SNP Nexus

SNPshotrs797045337
SNPdbers797045337
MSV3drs797045337
GWAS Ctlgrs797045337
Max Magnitude0
ClinVar
Risk rs797045337(T;T)
Alt rs797045337(T;T)
Reference rs797045337(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.77264722G>T
CLNSRC
CLNACC RCV000193862.1,