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: rs398123122
rs398123122
APC
2 0.925 0.120 5 112840063 frameshift variant -/T delins 0.700 0
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.090 1.000 9 2013 2019
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.060 1.000 6 2015 2019
dbSNP: rs1171472831
rs1171472831
1 1.000 0.040 3 41224664 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1363478606
rs1363478606
1 1.000 0.040 8 140890686 missense variant T/C snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs145640971
rs145640971
1 1.000 0.040 10 52314555 missense variant G/A snv 1.3E-04 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2016 2016
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs559510809
rs559510809
APC
3 0.882 0.120 5 112819294 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs756906833
rs756906833
1 1.000 0.040 8 140890680 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs774104442
rs774104442
1 1.000 0.040 10 67607015 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs776599337
rs776599337
1 1.000 0.040 8 140744759 frameshift variant TG/- del 0.010 1.000 1 2018 2018