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: rs1045675831
rs1045675831
1 1.000 0.120 16 2089927 stop gained G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs1555444225
rs1555444225
1 1.000 0.120 16 2090125 frameshift variant A/- del 0.700 1.000 1 2000 2000
dbSNP: rs1555444468
rs1555444468
1 1.000 0.120 16 2090336 inframe deletion TCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs766551411
rs766551411
1 1.000 0.120 16 2090802 stop gained G/A;C snv 4.1E-06; 4.1E-06 0.700 1.000 1 2014 2014
dbSNP: rs1325300747
rs1325300747
1 1.000 0.120 16 2091857 stop gained G/A;C snv 0.700 0
dbSNP: rs1555444334
rs1555444334
1 1.000 0.120 16 2090196 splice acceptor variant T/A;G snv 0.700 0
dbSNP: rs1555445192
rs1555445192
1 1.000 0.120 16 2091077 frameshift variant CAGGCTCCGAGCC/- delins 0.700 0