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: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs115099192
rs115099192
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs387906769
rs387906769
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.010 1.000 1 2010 2010