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: rs1240681880
rs1240681880
DNAH8
3 0.882 0.160 6 38722870 missense variant G/A snv 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs199474703
rs199474703
MYL3
5 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs750083965
rs750083965
MYL9 ; DLGAP4-AS1
3 0.882 0.160 20 36548073 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005