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: rs104894398
rs104894398
10 0.776 0.280 13 20189443 stop gained C/A;T snv 1.3E-04; 4.0E-06 0.700 0
dbSNP: rs1057517491
rs1057517491
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.700 0
dbSNP: rs1057517508
rs1057517508
2 0.925 0.120 13 20189068 frameshift variant A/- del 0.700 0
dbSNP: rs1064797088
rs1064797088
2 0.925 0.120 13 20189446 missense variant C/T snv 0.700 0
dbSNP: rs1064797089
rs1064797089
1 1.000 0.120 13 20189418 missense variant G/T snv 0.700 0
dbSNP: rs1064797090
rs1064797090
1 1.000 0.120 13 20189410 missense variant G/A;C snv 0.700 0
dbSNP: rs111033293
rs111033293
10 0.763 0.280 13 20189581 start lost T/A;C snv 3.6E-05 4.2E-05 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: rs111033299
rs111033299
10 0.763 0.280 13 20189299 missense variant C/T snv 4.8E-05 7.7E-05 0.700 0
dbSNP: rs1566528901
rs1566528901
1 1.000 0.120 13 20189455 inframe deletion CCT/- delins 0.700 0
dbSNP: rs371024165
rs371024165
9 0.763 0.400 13 20189488 missense variant G/A;T snv 3.2E-05; 8.0E-06 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: rs727503066
rs727503066
8 0.776 0.280 13 20189203 missense variant G/A;C snv 0.700 0
dbSNP: rs774518779
rs774518779
9 0.776 0.280 13 20189076 missense variant C/T snv 8.0E-06 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: 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
dbSNP: rs80338948
rs80338948
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-04 0.700 0
dbSNP: rs80338949
rs80338949
1 1.000 0.120 13 20189095 missense variant T/C;G snv 1.4E-04 0.700 0
dbSNP: rs104894401
rs104894401
4 0.851 0.120 13 20189154 missense variant C/T snv 0.800 1.000 18 1998 2015
dbSNP: rs1801002
rs1801002
3 0.925 0.120 13 20189547 missense variant C/A;T snv 9.2E-05; 7.2E-05 0.700 1.000 12 2000 2015
dbSNP: rs111033190
rs111033190
3 0.925 0.120 13 20189487 missense variant C/A;T snv 3.2E-05; 4.0E-06 0.700 1.000 11 2001 2015
dbSNP: rs111033295
rs111033295
4 0.925 0.120 13 20189217 missense variant T/A;G snv 6.0E-05 0.700 1.000 10 2002 2016