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rs797045363

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045363(C;C)
Make rs797045363(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78020398
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045363
ebirs797045363
HLIrs797045363
Exacrs797045363
Varsomers797045363
Maprs797045363
PheGenIrs797045363
hapmaprs797045363
1000 genomesrs797045363
hgdprs797045363
ensemblrs797045363
gopubmedrs797045363
geneviewrs797045363
scholarrs797045363
googlers797045363
pharmgkbrs797045363
gwascentralrs797045363
openSNPrs797045363
23andMers797045363
23andMe allrs797045363
SNP Nexus

SNPshotrs797045363
SNPdbers797045363
MSV3drs797045363
GWAS Ctlgrs797045363
Max Magnitude0
ClinVar
Risk rs797045363(C;C)
Alt rs797045363(C;C)
Reference rs797045363(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.77275895G>C
CLNSRC
CLNACC RCV000194847.1,