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rs797045354

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045354(G;G)
Make rs797045354(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78013063
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045354
ebirs797045354
HLIrs797045354
Exacrs797045354
Varsomers797045354
Maprs797045354
PheGenIrs797045354
hapmaprs797045354
1000 genomesrs797045354
hgdprs797045354
ensemblrs797045354
gopubmedrs797045354
geneviewrs797045354
scholarrs797045354
googlers797045354
pharmgkbrs797045354
gwascentralrs797045354
openSNPrs797045354
23andMers797045354
23andMe allrs797045354
SNP Nexus

SNPshotrs797045354
SNPdbers797045354
MSV3drs797045354
GWAS Ctlgrs797045354
Max Magnitude0
ClinVar
Risk rs797045354(G;G)
Alt rs797045354(G;G)
Reference rs797045354(T;T)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268560T>G
CLNSRC
CLNACC RCV000192663.1,