Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771237928
rs771237928
NOTCH2
TG 0.700 CausalMutation CLINVAR End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 27312922

2016
dbSNP: rs771237928
rs771237928
NOTCH2
TG 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989

2011
dbSNP: rs771237928
rs771237928
NOTCH2
TG 0.700 CausalMutation CLINVAR Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 21378985

2011
dbSNP: rs771237928
rs771237928
NOTCH2
TG 0.700 CausalMutation CLINVAR PEST sequences and regulation by proteolysis. 8755249

1996
dbSNP: rs771237928
rs771237928
NOTCH2
T 0.700 CausalMutation CLINVAR