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rs797045374

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045374(G;T)
Make rs797045374(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78031583
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045374
ebirs797045374
HLIrs797045374
Exacrs797045374
Varsomers797045374
Maprs797045374
PheGenIrs797045374
hapmaprs797045374
1000 genomesrs797045374
hgdprs797045374
ensemblrs797045374
gopubmedrs797045374
geneviewrs797045374
scholarrs797045374
googlers797045374
pharmgkbrs797045374
gwascentralrs797045374
openSNPrs797045374
23andMers797045374
23andMe allrs797045374
SNP Nexus

SNPshotrs797045374
SNPdbers797045374
MSV3drs797045374
GWAS Ctlgrs797045374
Max Magnitude0
ClinVar
Risk rs797045374(T;T)
Alt rs797045374(T;T)
Reference rs797045374(G;G)
Significance Probable-Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77287081G>T
CLNSRC
CLNACC RCV000192588.1,