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: rs875989883
rs875989883
9 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0
dbSNP: rs748219743
rs748219743
4 1.000 0.080 2 233760634 frameshift variant -/A delins 0.700 0
dbSNP: rs139073416
rs139073416
9 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
dbSNP: rs774843232
rs774843232
9 0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 0.700 0
dbSNP: rs1567705064
rs1567705064
8 1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del 0.700 0
dbSNP: rs104894080
rs104894080
9 0.790 0.120 8 74364005 missense variant C/T snv 3.2E-05 4.2E-05 0.700 0