Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1045485
CASP8
0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs2235544
DIO1
0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 14
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv 14
rs1035938
BICRA
0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 8
rs730882035
VHL
0.807 0.200 3 10149805 missense variant G/A snv 7
rs9420907
STN1
0.790 0.320 10 103916707 intron variant C/A;G snv 7
rs267606541
AIP
0.827 0.160 11 67487147 stop gained C/T snv 5
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs3219466
MUTYH ; TOE1
0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 4
rs2686876 0.882 0.080 11 258909 intergenic variant T/A;C snv 3
rs768803947
TP53
0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 3
rs121434259
NF2
0.925 0.160 22 29636805 stop gained C/T snv 2
rs202247756
SUFU
1.000 0.080 10 102550019 missense variant C/T snv 2
rs1329443726
CDKN2A
1.000 0.080 9 21971097 frameshift variant C/- delins 1
rs1475218156
CDKN2B ; CDKN2B-AS1
1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06 1
rs1568234664
DNMT1
1.000 0.080 19 10154774 splice acceptor variant C/A snv 1
rs587776563
NF2
1.000 0.080 22 29668440 frameshift variant A/- delins 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 13