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rs797045340

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045340(C;C)
Make rs797045340(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011253
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045340
ebirs797045340
HLIrs797045340
Exacrs797045340
Varsomers797045340
Maprs797045340
PheGenIrs797045340
hapmaprs797045340
1000 genomesrs797045340
hgdprs797045340
ensemblrs797045340
gopubmedrs797045340
geneviewrs797045340
scholarrs797045340
googlers797045340
pharmgkbrs797045340
gwascentralrs797045340
openSNPrs797045340
23andMers797045340
23andMe allrs797045340
SNP Nexus

SNPshotrs797045340
SNPdbers797045340
MSV3drs797045340
GWAS Ctlgrs797045340
Max Magnitude0
ClinVar
Risk rs797045340(C;C)
Alt rs797045340(C;C)
Reference rs797045340(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.77266750G>C
CLNSRC
CLNACC RCV000194275.1,