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: rs1085307222
rs1085307222
BMPR2
0.925 0.080 2 202467640 frameshift variant -/A delins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307234
rs1085307234
BMPR2
0.925 0.080 2 202513748 frameshift variant -/C delins
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: rs1085307246
rs1085307246
BMPR2
0.925 0.080 2 202514968 frameshift variant A/- delins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307278
rs1085307278
BMPR2
0.925 0.080 2 202520204 splice region variant A/- delins
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: 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: rs1085307285
rs1085307285
BMPR2
0.925 0.080 2 202530818 missense variant A/G 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: 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: 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: 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: rs863223424
rs863223424
BMPR2
0.925 0.080 2 202520085 splice acceptor variant A/G snv 7.2E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs863223426
rs863223426
BMPR2
0.925 0.080 2 202467648 missense variant A/G snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307225
rs1085307225
BMPR2
0.925 0.080 2 202467675 frameshift variant AACAC/- delins
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
dbSNP: rs1085307261
rs1085307261
BMPR2
0.925 0.080 2 202518993 frameshift variant AGAG/- delins
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: 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: 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: 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: rs765887545
rs765887545
BMPR2
0.925 0.080 2 202555415 stop gained C/G;T snv 4.0E-06
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: 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