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: rs1131691965
rs1131691965
3 0.882 0.200 16 2074394 splice region variant G/C snv 0.700 0
dbSNP: rs118203388
rs118203388
1 1.000 0.120 9 132923361 stop gained G/T snv 0.700 0
dbSNP: rs118203427
rs118203427
3 0.882 0.200 9 132921418 stop gained G/A snv 0.700 0
dbSNP: rs118203542
rs118203542
4 0.851 0.200 9 132906053 stop gained G/A snv 0.700 0
dbSNP: rs118203631
rs118203631
4 0.851 0.200 9 132903785 stop gained G/A snv 0.700 0
dbSNP: rs1564488264
rs1564488264
3 0.882 0.200 9 132911110 frameshift variant T/- del 0.700 0
dbSNP: rs1567387207
rs1567387207
3 0.882 0.200 16 2050487 splice donor variant G/A snv 0.700 0
dbSNP: rs1567437155
rs1567437155
3 0.882 0.200 16 2064286 frameshift variant C/- del 0.700 0
dbSNP: rs45469298
rs45469298
5 0.851 0.200 16 2070570 missense variant C/G;T snv 0.700 0
dbSNP: rs45517148
rs45517148
1 1.000 0.120 16 2060790 stop gained G/A;C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs45517179
rs45517179
3 0.882 0.200 16 2064341 stop gained C/G;T snv 0.700 0
dbSNP: rs45517222
rs45517222
3 0.882 0.200 16 2072879 stop gained C/T snv 0.700 0
dbSNP: rs45517395
rs45517395
4 0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs45517412
rs45517412
4 0.882 0.200 16 2088293 missense variant C/G;T snv 0.700 0
dbSNP: rs28934872
rs28934872
5 0.851 0.200 16 2070571 missense variant G/A snv 0.800 1.000 2 2000 2002
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2018 2018