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: rs104886456
rs104886456
3 0.925 0.120 9 95172033 splice region variant T/A snv 2.9E-04 2.1E-04 0.700 1.000 10 1993 2016
dbSNP: rs121917783
rs121917783
3 0.851 0.200 9 95150056 stop gained G/A snv 5.6E-05 1.0E-04 0.700 1.000 10 1993 2017
dbSNP: rs104886457
rs104886457
4 0.882 0.240 9 95101742 stop gained G/A snv 5.2E-05 7.7E-05 0.700 1.000 5 1993 2017
dbSNP: rs1057516291
rs1057516291
3 0.925 0.120 9 95240655 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs370510954
rs370510954
3 0.925 0.120 9 95125085 splice donor variant C/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs776529713
rs776529713
2 1.000 0.120 9 95125136 stop gained G/A;C snv 4.0E-06 0.700 0