Source: CLINVAR

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: rs759191907
rs759191907
ENG ; LOC105379841
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs149989682
rs149989682
ABCA3
0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs137852741
rs137852741
BMPR2
0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1559810905
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 1.000 1 2020 2020
dbSNP: rs766265889
rs766265889
TTN ; TTN-AS1
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs121909288
rs121909288
ACVRL1
0.851 0.160 12 51920831 missense variant C/G;T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1060502576
rs1060502576
BMPR2
0.882 0.080 2 202542432 stop gained G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs137852746
rs137852746
BMPR2
0.882 0.080 2 202552773 missense variant C/T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs137852749
rs137852749
BMPR2
0.882 0.080 2 202552774 missense variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs137852753
rs137852753
BMPR2
0.882 0.080 2 202518831 stop gained C/T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs63751422
rs63751422
PMS2
0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs863223408
rs863223408
ACVRL1
0.882 0.160 12 51920832 missense variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs886039506
rs886039506
ENG ; LOC105379841
0.882 0.160 9 127829770 stop gained G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1060502581
rs1060502581
BMPR2
0.925 0.080 2 202520195 stop gained C/T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307149
rs1085307149
BMPR2
0.925 0.080 2 202377501 stop gained G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307154
rs1085307154
BMPR2
0.925 0.080 2 202377522 stop gained G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307157
rs1085307157
BMPR2
0.925 0.080 2 202377555 splice region variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307163
rs1085307163
BMPR2
0.925 0.080 2 202464832 missense variant T/C snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307169
rs1085307169
BMPR2
0.925 0.080 2 202464884 frameshift variant TC/- delins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307177
rs1085307177
BMPR2
0.925 0.080 2 202464932 missense variant A/G snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307180
rs1085307180
BMPR2
0.925 0.080 2 202464935 missense variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307184
rs1085307184
BMPR2
0.925 0.080 2 202464976 stop gained C/T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307188
rs1085307188
BMPR2
0.925 0.080 2 202464980 splice donor variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0