Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs964184
ZPR1
0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 38
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 34
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 31
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs7679673 0.677 0.440 4 105140377 intron variant C/A snv 0.50 25
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41 25
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 22
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 21
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 19
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 19
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 19
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 19
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36 19
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
rs72653772
ABCC6
0.807 0.320 16 16190246 missense variant C/T snv 8.4E-05 1.1E-04 16
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 16
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 15
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 14
rs863224909
PTEN
0.732 0.360 10 87960952 stop gained C/A;G snv 14
rs28939702
ABCC6
0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05 13
rs10505477
CASC8 ; PCAT1 ; POU5F1B
0.658 0.400 8 127395198 intron variant A/G snv 0.40 13
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 13
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 13