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: rs1554919471
rs1554919471
4 0.925 0.200 11 2768861 frameshift variant G/- delins 0.700 1.000 1 2018 2018
dbSNP: rs1057517966
rs1057517966
3 0.925 0.160 3 69959325 stop gained C/T snv 0.700 0
dbSNP: rs1057518826
rs1057518826
2 0.925 0.200 1 215993103 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs111033334
rs111033334
9 0.790 0.200 1 216247185 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs111033364
rs111033364
7 0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04 0.700 0
dbSNP: rs199679165
rs199679165
6 0.827 0.200 1 216097196 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs201650281
rs201650281
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
dbSNP: rs201866631
rs201866631
4 0.882 0.200 17 74920325 stop gained C/A;T snv 4.1E-06; 8.1E-06 0.700 0
dbSNP: rs571007078
rs571007078
1 1.000 0.120 3 121994215 frameshift variant A/- delins 1.0E-04 0.700 0
dbSNP: rs727504301
rs727504301
5 0.851 0.200 10 54090054 stop gained G/A;C snv 0.700 0
dbSNP: rs768257384
rs768257384
1 1.000 0.120 17 18157059 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs772410450
rs772410450
5 0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs780170125
rs780170125
2 0.925 0.120 17 18149489 frameshift variant ACAG/- delins 1.3E-04 0.700 0
dbSNP: rs796052243
rs796052243
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs80338903
rs80338903
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs876657731
rs876657731
6 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs387906930
rs387906930
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.010 1.000 1 2010 2010