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: rs756090401
rs756090401
APC
1 1.000 0.080 5 112835036 missense variant A/G snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs758204762
rs758204762
ERBB2
2 0.925 0.080 17 39712330 missense variant G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs75873440
rs75873440
RET
10 0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs773197447
rs773197447
FGFR3
1 1.000 0.080 4 1807159 missense variant G/A;C snv 3.2E-05; 2.3E-05 0.010 1.000 1 2015 2015
dbSNP: rs876660572
rs876660572
APC
2 1.000 0.080 5 112815549 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2008 2008
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008