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: rs797044482
rs797044482
1 12 12718118 frameshift variant -/T ins 0.700 0
dbSNP: rs797044483
rs797044483
1 12 12718173 frameshift variant A/- del 0.700 0
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs104894097
rs104894097
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs1060501206
rs1060501206
1 17 7675056 missense variant C/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2017 2017
dbSNP: rs797044481
rs797044481
1 12 12717966 stop gained C/TAA delins 0.700 0
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2016 2016
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs121909233
rs121909233
2 1.000 0.040 10 87864524 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121913520
rs121913520
KIT
4 1.000 0.080 4 54727443 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2016 2016
dbSNP: rs730881979
rs730881979
2 1.000 0.160 19 1220434 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121908586
rs121908586
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.010 < 0.001 1 2007 2007
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1459045148
rs1459045148
1 4 152346994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs730882002
rs730882002
6 0.925 0.040 17 7674956 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs869025667
rs869025667
VHL
6 0.827 0.200 3 10149916 missense variant T/C snv 0.010 1.000 1 2014 2014