Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852745
rs137852745
G 0.800 CausalMutation CLINVAR

dbSNP: rs137852750
rs137852750
A 0.800 CausalMutation CLINVAR

dbSNP: rs1085307185
rs1085307185
0.700 GeneticVariation UNIPROT

dbSNP: rs1085307354
rs1085307354
0.700 GeneticVariation UNIPROT

dbSNP: rs137852742
rs137852742
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553508321
rs1553508321
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553509983
rs1553509983
CAG 0.700 CausalMutation CLINVAR

dbSNP: rs1553509984
rs1553509984
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559073178
rs1559073178
TA 0.700 CausalMutation CLINVAR

dbSNP: rs398123039
rs398123039
A 0.700 CausalMutation CLINVAR

dbSNP: rs483352902
rs483352902
A 0.700 CausalMutation CLINVAR

dbSNP: rs869025367
rs869025367
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878854272
rs878854272
G 0.700 CausalMutation CLINVAR

dbSNP: rs886039220
rs886039220
AGGG 0.700 CausalMutation CLINVAR

dbSNP: rs886039221
rs886039221
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039223
rs886039223
AAT 0.700 CausalMutation CLINVAR

dbSNP: rs1085307215
rs1085307215
0.800 GeneticVariation UNIPROT Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931

2000

dbSNP: rs1085307215
rs1085307215
0.800 GeneticVariation UNIPROT Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254

2000

dbSNP: rs1085307215
rs1085307215
A 0.800 CausalMutation CLINVAR Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 11015450

2000

dbSNP: rs1085307215
rs1085307215
0.800 GeneticVariation UNIPROT Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 11015450

2000

dbSNP: rs1085307324
rs1085307324
0.800 GeneticVariation UNIPROT Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254

2000

dbSNP: rs1085307324
rs1085307324
0.800 GeneticVariation UNIPROT Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931

2000

dbSNP: rs1085307324
rs1085307324
0.800 GeneticVariation UNIPROT Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 11015450

2000

dbSNP: rs1085307364
rs1085307364
0.800 GeneticVariation UNIPROT Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 10903931

2000

dbSNP: rs1085307364
rs1085307364
0.800 GeneticVariation UNIPROT Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 10973254

2000