Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs397509239
BRCA1
1.000 17 43057122 frameshift variant A/- del 1
rs2980853 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 16
rs16892766 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 11
rs1333048
CDKN2B-AS1
0.683 0.320 9 22125348 intron variant A/C snv 0.44 10
rs1057519697
ALK
0.776 0.120 2 29220830 missense variant A/C snv 2
rs1566734
PTPRJ
0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 2
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 2
rs2239704
LTA ; LOC100287329
0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 2
rs314276
LIN28B
0.807 0.280 6 104960124 intron variant A/C snv 0.65 2
rs11079867 17 49277423 intron variant A/C snv 0.53 1
rs1395602
UBN1
16 4861238 intron variant A/C snv 0.55 1
rs1558562
SEC14L5 ; NAGPA-AS1
16 5011882 intron variant A/C snv 0.44 1
rs17234274
LINC02718
11 23192820 intron variant A/C snv 0.40 1
rs2834461 21 34344072 intron variant A/C snv 0.52 1
rs7225787
ZNF652
17 49351211 intron variant A/C snv 0.43 1
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 15
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 11
rs6010620
RTEL1 ; RTEL1-TNFRSF6B
0.701 0.360 20 63678486 intron variant A/C;G snv 4
rs11249433
EMBP1
0.827 0.160 1 121538815 intron variant A/C;G snv 3
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs2069837
IL6-AS1 ; IL6
0.724 0.520 7 22728408 intron variant A/C;G snv 2
rs267606704
CBL
1.000 11 119278170 missense variant A/C;G snv 1
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 30