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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs869025366
rs869025366
BMPR2
0.925 0.080 2 202513739 stop gained C/T snv 4.0E-06
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