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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs454886
rs454886
APC
10 0.763 0.280 5 112810420 intron variant A/G snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs4855883
rs4855883
4 0.851 0.080 3 49673881 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2017 2017
dbSNP: rs3812265
rs3812265
3 0.925 0.040 7 135364052 missense variant C/G;T snv 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs10505168
rs10505168
2 0.925 0.040 8 112643523 non coding transcript exon variant T/C snv 0.33 0.36 0.010 < 0.001 1 2017 2017
dbSNP: rs12676482
rs12676482
3 0.882 0.120 8 42316559 intron variant G/A snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs375557
rs375557
3 0.882 0.080 13 41557730 intergenic variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2114358
rs2114358
4 0.851 0.160 8 128008933 non coding transcript exon variant G/A;C snv 0.63 0.010 < 0.001 1 2017 2017
dbSNP: rs1629816
rs1629816
4 0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs4149570
rs4149570
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs151264360
rs151264360
3 0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins 0.010 < 0.001 1 2018 2018
dbSNP: rs34743033
rs34743033
8 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 0.010 < 0.001 1 2018 2018
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2013 2013
dbSNP: rs11081899
rs11081899
4 0.851 0.160 18 35344446 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017