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rs797045341

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045341(A;A)
Make rs797045341(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011257
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045341
ebirs797045341
HLIrs797045341
Exacrs797045341
Varsomers797045341
Maprs797045341
PheGenIrs797045341
hapmaprs797045341
1000 genomesrs797045341
hgdprs797045341
ensemblrs797045341
gopubmedrs797045341
geneviewrs797045341
scholarrs797045341
googlers797045341
pharmgkbrs797045341
gwascentralrs797045341
openSNPrs797045341
23andMers797045341
23andMe allrs797045341
SNP Nexus

SNPshotrs797045341
SNPdbers797045341
MSV3drs797045341
GWAS Ctlgrs797045341
Max Magnitude0
ClinVar
Risk rs797045341(A;A)
Alt rs797045341(A;A)
Reference rs797045341(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.77266754G>A
CLNSRC
CLNACC RCV000192316.1,