Disease: Pulmonary arterial hypertension associated with congenital heart disease ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307167
rs1085307167 		1.000 2 202464857 missense variant A/G snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2004 2004
dbSNP: rs1085307168
rs1085307168 		1.000 2 202464872 missense variant G/A snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2004 2004
dbSNP: rs1085307206
rs1085307206 		1.000 2 202467575 missense variant A/G snv 4.0E-06
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2004 2004
dbSNP: rs1085307207
rs1085307207 		1.000 2 202467590 missense variant T/C snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2004 2004
dbSNP: rs1085307244
rs1085307244 		1.000 2 202514914 missense variant A/G snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2004 2004
dbSNP: rs1553508187
rs1553508187 		1.000 2 202513830 splice donor variant G/A snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2018 2018
dbSNP: rs767070218
rs767070218 		0.925 0.040 2 202532733 splice donor variant G/A snv
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2018 2018