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rs797045392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs797045392(-;-)
Make rs797045392(-;TCT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78043325
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045392
dbSNP (old)rs797045392
ClinGenrs797045392
ebirs797045392
HLIrs797045392
Exacrs797045392
Gnomadrs797045392
Varsomers797045392
Maprs797045392
PheGenIrs797045392
Biobankrs797045392
1000 genomesrs797045392
hgdprs797045392
ensemblrs797045392
gopubmedrs797045392
geneviewrs797045392
scholarrs797045392
googlers797045392
pharmgkbrs797045392
gwascentralrs797045392
openSNPrs797045392
23andMers797045392
23andMe allrs797045392
SNP Nexus

SNPshotrs797045392
SNPdbers797045392
MSV3drs797045392
GWAS Ctlgrs797045392
Max Magnitude0
ClinVar
Risk rs797045392(-;-)
Alt rs797045392(-;-)
Reference Rs797045392(TCT;TCT)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77298823_77298825delTCT
CLNSRC
CLNACC RCV000194645.1,