Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs9995
NBN ; OSGIN2
1.000 0.040 8 89933828 3 prime UTR variant A/G snv 0.32 1
rs9960018
DLGAP1
1.000 0.040 18 3793080 intron variant C/T snv 0.13 1
rs993022333
KIT
0.851 0.080 4 54733173 missense variant A/C;T snv 5
rs947005337
POT1
0.925 0.120 7 124870933 missense variant A/G snv 1.6E-05 1.4E-05 2
rs927650
CYP24A1
0.763 0.240 20 54156202 intron variant T/A;C snv 9
rs910873
PIGU
0.882 0.160 20 34583968 intron variant G/A;C snv 3
rs910871
NCOA6
1.000 0.040 20 34745404 intron variant C/A snv 0.85 1
rs910532454
CXCR4
0.882 0.080 2 136115453 missense variant C/A;T snv 4.0E-06 4
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins 6
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 16
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv 4
rs878853645
CDKN2A
1.000 0.040 9 21971176 missense variant C/G snv 1
rs876658511
CDKN2A
1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins 2
rs876658220
CDKN2A
1.000 0.040 9 21971147 frameshift variant T/- delins 2
rs869330
MTAP
0.925 0.080 9 21804618 intron variant A/G snv 0.62 2
rs869329
MTAP
0.851 0.080 9 21804694 intron variant A/G;T snv 4
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv 3
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv 9
rs868443937
ING1
1.000 0.040 13 110715751 missense variant G/C;T snv 1
rs867185
NBN
1.000 0.040 8 89962922 intron variant G/A snv 0.51 1
rs866551255
CDKN1A
1.000 0.040 6 36684145 missense variant G/A snv 2
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs8192284
IL6R
0.724 0.720 1 154454494 missense variant A/C;T snv 19
rs8059973
DBNDD1
1.000 0.040 16 90013126 intron variant A/G snv 0.78 1