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: rs1085307290
rs1085307290
BMPR2
0.925 0.080 2 202530865 missense variant T/C snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307312
rs1085307312
BMPR2
0.925 0.080 2 202532658 missense variant T/C snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307315
rs1085307315
BMPR2
0.925 0.080 2 202532677 stop gained T/G snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307340
rs1085307340
BMPR2
0.925 0.080 2 202542401 frameshift variant A/-;AA delins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307349
rs1085307349
BMPR2
0.925 0.080 2 202542448 splice donor variant G/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307352
rs1085307352
BMPR2
0.925 0.080 2 202552726 stop gained C/A snv
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: rs1273330603
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05
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: rs137852742
rs137852742
BMPR2
0.925 0.080 2 202464950 stop gained C/G;T snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs137852745
rs137852745
BMPR2
0.925 0.080 2 202552756 missense variant A/G 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: rs137852748
rs137852748
BMPR2
0.925 0.080 2 202556282 stop gained 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: rs137852750
rs137852750
BMPR2
0.925 0.080 2 202467638 missense variant T/A;C snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs137852751
rs137852751
BMPR2
0.925 0.080 2 202530820 stop gained C/T 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: 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: rs1553509997
rs1553509997
BMPR2
0.925 0.080 2 202532698 frameshift variant -/GA delins
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: rs1567744830
rs1567744830
HYDIN
0.925 0.120 16 70874437 stop gained C/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs373725296
rs373725296
BMPR2
0.925 0.080 2 202556373 missense variant A/G snv 1.2E-05 2.8E-05
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs576091247
rs576091247
BMPR2
0.925 0.080 2 202520094 stop gained T/A;C snv
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