Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
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
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
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
rs121918347
SMO
0.851 0.080 7 129210500 missense variant G/T snv 4
rs768803947
TP53
0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 3
rs202247756
SUFU
1.000 0.080 10 102550019 missense variant C/T snv 2
rs1475218156
CDKN2B ; CDKN2B-AS1
1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06 1
rs12770228
MIR1915HG
0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 4
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs3219466
MUTYH ; TOE1
0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 4
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1329443726
CDKN2A
1.000 0.080 9 21971097 frameshift variant C/- delins 1
rs587776563
NF2
1.000 0.080 22 29668440 frameshift variant A/- delins 1
rs1568234664
DNMT1
1.000 0.080 19 10154774 splice acceptor variant C/A snv 1
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv 14