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: rs1412113319
rs1412113319
1.000 0.080 4 95148847 missense variant C/G snv 4.0E-06
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension
Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012