Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553193507
rs1553193507
NOTCH2
A 0.700 GeneticVariation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989

2011
dbSNP: rs1553193507
rs1553193507
NOTCH2
A 0.700 CausalMutation CLINVAR