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rs797045347

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045347(C;C)
Make rs797045347(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011679
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045347
ebirs797045347
HLIrs797045347
Exacrs797045347
Varsomers797045347
Maprs797045347
PheGenIrs797045347
hapmaprs797045347
1000 genomesrs797045347
hgdprs797045347
ensemblrs797045347
gopubmedrs797045347
geneviewrs797045347
scholarrs797045347
googlers797045347
pharmgkbrs797045347
gwascentralrs797045347
openSNPrs797045347
23andMers797045347
23andMe allrs797045347
SNP Nexus

SNPshotrs797045347
SNPdbers797045347
MSV3drs797045347
GWAS Ctlgrs797045347
Max Magnitude0
ClinVar
Risk rs797045347(C;C)
Alt rs797045347(C;C)
Reference rs797045347(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.77267176G>C
CLNSRC
CLNACC RCV000193917.1,