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: rs104893751
rs104893751
5 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.700 0
dbSNP: rs137853236
rs137853236
6 0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs137853247
rs137853247
5 0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 0.700 0
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: rs1555212014
rs1555212014
6 0.807 0.280 12 120994264 missense variant C/T snv 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: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587776825
rs587776825
5 0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins 0.700 0
dbSNP: rs587782274
rs587782274
1 1.000 0.120 11 108312465 missense variant A/C snv 0.700 0
dbSNP: rs754729248
rs754729248
6 0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05 0.700 0
dbSNP: rs758175953
rs758175953
6 0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05 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: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs28940297
rs28940297
VHL
4 0.882 0.240 3 10149811 missense variant T/C;G snv 0.700 1.000 1 2002 2002
dbSNP: rs1010980331
rs1010980331
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1048798213
rs1048798213
APC
1 1.000 0.120 5 112837872 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1049334
rs1049334
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011