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: rs149989682
rs149989682
0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs773223403
rs773223403
1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0