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rs797045361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045361(-;C)
Make rs797045361(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78020262
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045361
ClinGenrs797045361
ebirs797045361
HLIrs797045361
Exacrs797045361
Varsomers797045361
Maprs797045361
PheGenIrs797045361
hapmaprs797045361
1000 genomesrs797045361
hgdprs797045361
ensemblrs797045361
gopubmedrs797045361
geneviewrs797045361
scholarrs797045361
googlers797045361
pharmgkbrs797045361
gwascentralrs797045361
openSNPrs797045361
23andMers797045361
23andMe allrs797045361
SNP Nexus

SNPshotrs797045361
SNPdbers797045361
MSV3drs797045361
GWAS Ctlgrs797045361
Max Magnitude0
ClinVar
Risk rs797045361(C;C)
Alt rs797045361(C;C)
Reference Rs797045361(-;-)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77275759dupC
CLNSRC
CLNACC RCV000192771.1,