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: 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: rs773223403
rs773223403
ABCA3
1.000 0.080 16 2319842 splice acceptor variant T/C snv 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: 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: 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: 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
dbSNP: rs1085307203
rs1085307203
BMPR2
0.925 0.080 2 202467551 missense variant T/C;G snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.700 0
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: rs1085307223
rs1085307223
BMPR2
0.925 0.080 2 202467670 frameshift variant T/- del
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: rs1085307229
rs1085307229
BMPR2
0.925 0.080 2 202467694 splice region variant G/A snv
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: 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: 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: rs1085307267
rs1085307267
BMPR2
0.925 0.080 2 202520086 splice acceptor variant G/A;C snv
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