Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852937
rs137852937
0.800 GeneticVariation UNIPROT The three-dimensional structural basis of type II hyperprolinemia. 22516612

2012

dbSNP: rs137852937
rs137852937
0.800 GeneticVariation UNIPROT Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195

1998

dbSNP: rs137852937
rs137852937
A 0.800 CausalMutation CLINVAR

dbSNP: rs387906314
rs387906314
G 0.700 GeneticVariation CLINVAR Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. 9700195

1998

dbSNP: rs1557620472
rs1557620472
G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906314
rs387906314
G 0.700 CausalMutation CLINVAR

dbSNP: rs779536510
rs779536510
CA 0.700 CausalMutation CLINVAR

dbSNP: rs78532707
rs78532707
T 0.700 GeneticVariation CLINVAR

dbSNP: rs78532707
rs78532707
T 0.700 CausalMutation CLINVAR