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rs797045379

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045379(C;T)
Make rs797045379(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78033812
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045379
ebirs797045379
HLIrs797045379
Exacrs797045379
Varsomers797045379
Maprs797045379
PheGenIrs797045379
hapmaprs797045379
1000 genomesrs797045379
hgdprs797045379
ensemblrs797045379
gopubmedrs797045379
geneviewrs797045379
scholarrs797045379
googlers797045379
pharmgkbrs797045379
gwascentralrs797045379
openSNPrs797045379
23andMers797045379
23andMe allrs797045379
SNP Nexus

SNPshotrs797045379
SNPdbers797045379
MSV3drs797045379
GWAS Ctlgrs797045379
Max Magnitude0
ClinVar
Risk rs797045379(T;T)
Alt rs797045379(T;T)
Reference rs797045379(C;C)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77289310C>T
CLNSRC
CLNACC RCV000192813.1,