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: rs150759461
rs150759461
MYH11
2 16 15778831 missense variant G/A snv 1.7E-03 1.7E-03 0.020 1.000 2 2018 2018
dbSNP: rs12455792
rs12455792
SMAD4
1 18 51046270 intron variant C/A;T snv 0.010 1.000 1 2017 2017