Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1872328
ACYP2
0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 6
rs1800435
ALAD
0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 7
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv 12
rs113994088
ALK
0.925 0.080 2 29222584 missense variant C/G snv 4
rs113994089
ALK
0.925 0.120 2 29220776 missense variant C/G;T snv 4
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
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
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv 24
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 13
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 11
rs80359183
BRCA2
0.882 0.120 13 32380096 stop gained T/A;C snv 4
rs1052576
CASP9
0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 9
rs603965
CCND1
0.732 0.440 11 69648142 splice region variant G/A snv 14
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06 4
rs1333049
CDKN2B-AS1
0.614 0.520 9 22125504 intron variant G/C snv 0.41 60
rs4977756
CDKN2B-AS1
0.683 0.440 9 22068653 intron variant G/A snv 0.64 24
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 26
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 12
rs754820004
CUL3
2 224557736 missense variant T/C snv 4.0E-06 1
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs4646903
CYP1A1
0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 36