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: rs121909291
rs121909291
1 1.000 0.080 2 74462332 missense variant C/G;T snv 2.0E-05 0.800 1.000 1 2000 2000
dbSNP: rs121909292
rs121909292
1 1.000 0.080 2 74461835 missense variant A/G snv 0.800 1.000 1 2000 2000
dbSNP: rs863225089
rs863225089
2 1.000 0.080 2 74464919 missense variant C/T snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587777323
rs587777323
3 0.925 0.080 2 74464705 stop gained G/A snv 1.6E-05 7.0E-05 0.700 0
dbSNP: rs777654978
rs777654978
1 1.000 0.080 2 74463320 frameshift variant C/- del 1.2E-05 2.1E-05 0.700 0