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: rs587777526
rs587777526
3 0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs587777522
rs587777522
1 1.000 0.160 20 50892220 frameshift variant AATT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587777523
rs587777523
1 1.000 0.160 20 50892215 frameshift variant TTTA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057518345
rs1057518345
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518978
rs1057518978
3 1.000 0.160 20 50892395 frameshift variant -/T delins 0.700 0
dbSNP: rs1135401791
rs1135401791
1 1.000 0.160 20 50894197 stop gained G/A snv 0.700 0
dbSNP: rs1135401808
rs1135401808
1 1.000 0.160 20 50892557 stop gained -/T delins 0.700 0
dbSNP: rs1555809984
rs1555809984
1 1.000 0.160 20 50892517 frameshift variant AACT/- delins 0.700 0
dbSNP: rs1555810193
rs1555810193
1 1.000 0.160 20 50892997 frameshift variant C/- delins 0.700 0
dbSNP: rs1555810376
rs1555810376
1 1.000 0.160 20 50893491 frameshift variant TT/- delins 0.700 0
dbSNP: rs1568710501
rs1568710501
1 1.000 0.160 20 50893981 stop gained C/A snv 0.700 0
dbSNP: rs1568722170
rs1568722170
1 1.000 0.160 20 50902039 frameshift variant -/CC delins 0.700 0
dbSNP: rs587777524
rs587777524
1 1.000 0.160 20 50893503 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs587777525
rs587777525
1 1.000 0.160 20 50891906 frameshift variant G/- del 0.700 0
dbSNP: rs886041116
rs886041116
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs886041741
rs886041741
1 1.000 0.160 20 50902027 frameshift variant -/T delins 0.700 0