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: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs104894397
rs104894397
3 0.882 0.120 13 20189353 missense variant A/G snv 4.0E-05 1.1E-04 0.700 0
dbSNP: rs104894408
rs104894408
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 0
dbSNP: rs104894415
rs104894415
11 0.742 0.240 13 20223450 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs111033204
rs111033204
3 0.925 0.120 13 20189282 frameshift variant AT/- del 6.4E-05 2.8E-05 0.700 0
dbSNP: rs111033253
rs111033253
4 0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04 0.700 0
dbSNP: rs111033294
rs111033294
10 0.763 0.280 13 20188965 missense variant T/C snv 9.6E-05 1.8E-04 0.700 0
dbSNP: rs35887622
rs35887622
8 0.790 0.200 13 20189481 missense variant A/C;G snv 8.7E-03 0.700 0
dbSNP: rs72474224
rs72474224
18 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.700 0
dbSNP: rs76434661
rs76434661
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 0.700 0
dbSNP: rs80338939
rs80338939
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 0
dbSNP: rs80338940
rs80338940
11 0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04 0.700 0
dbSNP: rs80338942
rs80338942
10 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 0
dbSNP: rs80338943
rs80338943
6 0.851 0.120 13 20189347 frameshift variant G/- delins 4.7E-04; 4.0E-06 2.1E-04 0.700 0
dbSNP: rs80338944
rs80338944
9 0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05 0.700 0
dbSNP: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0