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: rs104894401
rs104894401
4 0.851 0.120 13 20189154 missense variant C/T snv 0.800 1.000 18 1998 2015
dbSNP: rs104894402
rs104894402
5 0.882 0.200 13 20189359 missense variant G/A;C snv 0.800 1.000 9 1998 2009
dbSNP: rs104894406
rs104894406
2 0.925 0.200 13 20188977 missense variant C/A snv 0.800 1.000 7 1998 2009
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: rs1057517519
rs1057517519
3 0.925 0.120 13 20189523 missense variant A/G snv 0.700 1.000 5 2001 2014
dbSNP: rs1057517521
rs1057517521
2 0.925 0.120 13 20189006 frameshift variant TG/- delins 0.700 1.000 1 2005 2005
dbSNP: rs28931593
rs28931593
9 0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs770116143
rs770116143
2 0.925 0.120 13 20189017 frameshift variant CT/- delins 4.9E-05 0.700 1.000 1 2004 2004
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: rs1566528901
rs1566528901
1 1.000 0.120 13 20189455 inframe deletion CCT/- delins 0.700 0
dbSNP: rs727503066
rs727503066
8 0.776 0.280 13 20189203 missense variant G/A;C snv 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: rs80338948
rs80338948
12 0.763 0.280 13 20189155 missense variant G/A snv 1.2E-04 2.0E-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: rs80338944
rs80338944
9 0.763 0.280 13 20189351 stop gained C/T snv 1.4E-04 4.2E-05 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: rs76434661
rs76434661
11 0.763 0.280 13 20189166 missense variant C/T snv 2.9E-04 4.6E-04 0.700 1.000 10 2001 2014
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 1.000 3 1999 2003
dbSNP: rs104894408
rs104894408
13 0.742 0.280 13 20189548 missense variant C/A;G snv 5.1E-04 0.700 1.000 5 2004 2015
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: rs80338945
rs80338945
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0