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: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.060 1.000 6 2013 2019
dbSNP: rs104893626
rs104893626
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1242982981
rs1242982981
4 0.851 0.160 12 9984989 missense variant C/T snv 0.010 1.000 1 2013 2013