Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0032584
Disease: polyps
polyps 		0.070 1.000 7 2011 2019
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0032584
Disease: polyps
polyps 		0.070 1.000 7 2011 2019
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C0032584
Disease: polyps
polyps 		0.040 1.000 4 2012 2019
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C0032584
Disease: polyps
polyps 		0.030 1.000 3 2000 2005
dbSNP: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0032584
Disease: polyps
polyps 		0.030 1.000 3 2000 2005
dbSNP: rs34612342
rs34612342
MUTYH
0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03
CUI: C0032584
Disease: polyps
polyps 		0.030 1.000 3 2012 2019
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0032584
Disease: polyps
polyps 		0.020 1.000 2 2014 2014
dbSNP: rs121908585
rs121908585
PDGFRA
0.827 0.080 4 54285926 missense variant A/T snv
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2011 2011
dbSNP: rs2266780
rs2266780
FMO3
0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2007 2007
dbSNP: rs2266782
rs2266782
FMO3
0.851 0.200 1 171107825 missense variant G/A snv 0.37 0.41
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2007 2007
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2011 2011
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2010 2010
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2014 2014
dbSNP: rs777980327
rs777980327
APC
0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2014 2014
dbSNP: rs869320699
rs869320699
SMAD9
13 36879422 missense variant C/T snv
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2015 2015
dbSNP: rs886037672
rs886037672
DICER1
1.000 0.040 14 95116680 stop gained G/A snv
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2019 2019
dbSNP: rs951707208
rs951707208
RTN4
1.000 0.080 2 55026297 missense variant T/A snv 4.0E-06
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2013 2013