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rs797045339

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045339(G;G)
Make rs797045339(G;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78011180
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045339
ebirs797045339
HLIrs797045339
Exacrs797045339
Varsomers797045339
Maprs797045339
PheGenIrs797045339
hapmaprs797045339
1000 genomesrs797045339
hgdprs797045339
ensemblrs797045339
gopubmedrs797045339
geneviewrs797045339
scholarrs797045339
googlers797045339
pharmgkbrs797045339
gwascentralrs797045339
openSNPrs797045339
23andMers797045339
23andMe allrs797045339
SNP Nexus

SNPshotrs797045339
SNPdbers797045339
MSV3drs797045339
GWAS Ctlgrs797045339
Max Magnitude0
ClinVar
Risk rs797045339(G;G)
Alt rs797045339(G;G)
Reference rs797045339(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.77266677T>G
CLNSRC
CLNACC RCV000193177.1,