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rs797045391

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045391(G;T)
Make rs797045391(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78042789
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045391
ebirs797045391
HLIrs797045391
Exacrs797045391
Varsomers797045391
Maprs797045391
PheGenIrs797045391
hapmaprs797045391
1000 genomesrs797045391
hgdprs797045391
ensemblrs797045391
gopubmedrs797045391
geneviewrs797045391
scholarrs797045391
googlers797045391
pharmgkbrs797045391
gwascentralrs797045391
openSNPrs797045391
23andMers797045391
23andMe allrs797045391
SNP Nexus

SNPshotrs797045391
SNPdbers797045391
MSV3drs797045391
GWAS Ctlgrs797045391
Max Magnitude0
ClinVar
Risk rs797045391(T;T)
Alt rs797045391(T;T)
Reference rs797045391(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.77298287G>T
CLNSRC
CLNACC RCV000193560.1,