Source: ALL
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: rs121912667
rs121912667
TP53
4 0.851 0.200 17 7673766 missense variant T/A snv 0.710 1.000 1 2008 2008
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.040 1.000 4 2011 2015
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1465841
rs1465841
SMAD3
1 1.000 0.080 15 67093131 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1792658
rs1792658
SMAD2
2 0.925 0.120 18 47856234 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1962859
rs1962859
TGFBR2 ; LOC105377016
1 1.000 0.080 3 30656417 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs2071242
rs2071242
FLII
1 1.000 0.080 17 18251196 non coding transcript exon variant T/C snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs2337107
rs2337107
SMAD7
3 0.882 0.120 18 48932953 intron variant C/T snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs4464148
rs4464148
SMAD7
7 0.827 0.120 18 48932662 intron variant T/C snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs6918698
rs6918698
CCN2
5 0.851 0.200 6 131952117 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs730882025
rs730882025
TP53
21 0.724 0.360 17 7674885 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018