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: rs78001248
rs78001248
ACTG2
2 0.925 0.080 2 73913565 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs786205435
rs786205435
MYH11
2 0.925 0.080 16 15732617 stop gained T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs797044959
rs797044959
ACTG2
3 0.925 0.080 2 73914836 missense variant G/A snv 0.010 1.000 1 2015 2015