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: rs28931594
rs28931594
9 0.790 0.280 13 20189434 missense variant C/A;T snv 0.880 1.000 10 2002 2019
dbSNP: rs104894408
rs104894408
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.850 1.000 8 2002 2018
dbSNP: rs28929485
rs28929485
7 0.807 0.320 13 20189532 missense variant G/A;C snv 0.810 1.000 1 2004 2004
dbSNP: rs72561723
rs72561723
7 0.790 0.240 13 20189448 missense variant C/T snv 8.0E-06 0.780 1.000 8 2006 2019
dbSNP: rs80338939
rs80338939
14 0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03 0.700 1.000 7 1997 2007
dbSNP: rs80338942
rs80338942
10 0.776 0.280 13 20189415 frameshift variant A/- del 8.9E-04 5.8E-04 0.700 1.000 1 2007 2007
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: 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: rs104894413
rs104894413
9 0.776 0.280 13 20189451 stop gained C/G;T snv 2.4E-05 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: rs1566528711
rs1566528711
6 0.851 0.240 13 20189338 missense variant T/C snv 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: rs76434661
rs76434661
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 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: rs80338950
rs80338950
12 0.752 0.280 13 20189031 missense variant C/G;T snv 6.0E-05 0.700 0
dbSNP: rs1057517491
rs1057517491
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.080 1.000 8 2006 2019
dbSNP: rs1165937383
rs1165937383
3 0.925 0.240 13 20189540 frameshift variant -/T delins 2.1E-05 0.030 1.000 3 2004 2009