Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514715
rs397514715
SMAD9
1 1.000 13 36879563 missense variant T/C snv 1.0E-04 2.8E-05 0.800 1.000 1 2011 2011
dbSNP: rs121918359
rs121918359
SMAD9
2 0.925 0.040 13 36872722 stop gained G/A;T snv 2.4E-05 0.700 0
dbSNP: rs397514716
rs397514716
SMAD9
2 0.925 0.040 13 36865660 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0