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: rs1048798213
rs1048798213
APC
1 1.000 0.120 5 112837872 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1055259
rs1055259
1 1.000 0.120 1 109734239 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs12553173
rs12553173
1 1.000 0.120 9 35674104 synonymous variant T/C snv 0.14 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1442780982
rs1442780982
APC
1 1.000 0.120 5 112837977 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1642742
rs1642742
VHL
1 1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1642743
rs1642743
VHL
1 1.000 0.120 3 10148783 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2279776
rs2279776
1 1.000 0.120 9 8389364 synonymous variant C/G;T snv 0.50; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs34048824
rs34048824
1 1.000 0.120 2 25312674 intron variant T/C snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs706209
rs706209
CBS
1 1.000 0.120 21 43053315 3 prime UTR variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs71682980
rs71682980
1 1.000 0.120 14 23855957 intergenic variant A/-;AA;AAA;AAAA;AAAAA;AAAAAAA delins 0.010 1.000 1 2018 2018
dbSNP: rs8101626
rs8101626
1 1.000 0.120 19 10135353 intron variant G/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1397145500
rs1397145500
1 1.000 0.120 17 64066782 missense variant T/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs147608663
rs147608663
1 1.000 0.120 5 97171338 missense variant A/G snv 2.8E-05; 8.1E-06 4.9E-05 0.700 0
dbSNP: rs372947534
rs372947534
1 1.000 0.120 5 180626237 missense variant G/A snv 4.0E-05 6.3E-05 0.700 0
dbSNP: rs587782274
rs587782274
1 1.000 0.120 11 108312465 missense variant A/C snv 0.700 0
dbSNP: rs78683075
rs78683075
1 1.000 0.120 17 17222565 missense variant G/A snv 2.6E-04 2.4E-04 0.700 0
dbSNP: rs864321679
rs864321679
1 1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins 0.700 0
dbSNP: rs876658517
rs876658517
1 1.000 0.120 11 108327735 missense variant A/G;T snv 0.700 0
dbSNP: rs11762213
rs11762213
MET
2 0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 0.030 1.000 3 2013 2016
dbSNP: rs7579899
rs7579899
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.030 1.000 3 2011 2016
dbSNP: rs448012
rs448012
2 0.925 0.120 5 180619344 missense variant G/C snv 0.63 0.61 0.020 1.000 2 2014 2017
dbSNP: rs1010980331
rs1010980331
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10771279
rs10771279
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs1154454
rs1154454
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs11813268
rs11813268
2 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 0.010 1.000 1 2017 2017