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rs797045356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
Make rs797045356(AGG;T)
Make rs797045356(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position78013111
GeneATP7A
is asnp
is mentioned by
dbSNPrs797045356
dbSNP (old)rs797045356
ClinGenrs797045356
ebirs797045356
HLIrs797045356
Exacrs797045356
Varsomers797045356
Maprs797045356
PheGenIrs797045356
Biobankrs797045356
1000 genomesrs797045356
hgdprs797045356
ensemblrs797045356
gopubmedrs797045356
geneviewrs797045356
scholarrs797045356
googlers797045356
pharmgkbrs797045356
gwascentralrs797045356
openSNPrs797045356
23andMers797045356
23andMe allrs797045356
SNP Nexus

SNPshotrs797045356
SNPdbers797045356
MSV3drs797045356
GWAS Ctlgrs797045356
Max Magnitude0
ClinVar
Risk rs797045356(T;T)
Alt rs797045356(T;T)
Reference Rs797045356(AGG;AGG)
Significance Pathogenic
Disease Menkes kinky-hair syndrome
Variation info
Gene ATP7A
CLNDBN Menkes kinky-hair syndrome
Reversed 0
HGVS NC_000023.10:g.77268608_77268610delAGGinsT
CLNSRC
CLNACC RCV000192361.1,