Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307252
rs1085307252
BMPR2
0.882 0.080 2 202518890 missense variant A/T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.010 1.000 1 2014 2014
dbSNP: rs1085307253
rs1085307253
BMPR2
0.882 0.080 2 202518890 frameshift variant AG/T delins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.010 1.000 1 2014 2014
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.010 1.000 1 2020 2020
dbSNP: rs5029939
rs5029939
TNFAIP3
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.010 1.000 1 2010 2010
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.010 1.000 1 2017 2017