SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Disease: PULMONARY HYPERTENSION, PRIMARY, 2 ×
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: rs397514715
rs397514715 		1.000 13 36879563 missense variant T/C snv 1.0E-04 2.8E-05
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.800 1.000 1 2011 2011
dbSNP: rs121918359
rs121918359 		0.925 0.040 13 36872722 stop gained G/A;T snv 2.4E-05
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.700 0
dbSNP: rs397514716
rs397514716 		0.925 0.040 13 36865660 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.700 0