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rs797045376

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045376(G;T)
Make rs797045376(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78033662
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045376
ebirs797045376
HLIrs797045376
Exacrs797045376
Varsomers797045376
Maprs797045376
PheGenIrs797045376
hapmaprs797045376
1000 genomesrs797045376
hgdprs797045376
ensemblrs797045376
gopubmedrs797045376
geneviewrs797045376
scholarrs797045376
googlers797045376
pharmgkbrs797045376
gwascentralrs797045376
openSNPrs797045376
23andMers797045376
23andMe allrs797045376
SNP Nexus

SNPshotrs797045376
SNPdbers797045376
MSV3drs797045376
GWAS Ctlgrs797045376
Max Magnitude0
ClinVar
Risk rs797045376(T;T)
Alt rs797045376(T;T)
Reference rs797045376(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.77289160G>T
CLNSRC
CLNACC RCV000194716.1,