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
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv 22
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 19
rs505922
ABO
0.689 0.520 9 133273813 intron variant C/T snv 19
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 19
rs121913293
PTEN
0.732 0.360 10 87952142 missense variant C/A;T snv 18
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
rs370795352
PTEN
0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 13
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 13
rs80358920
BRCA2
0.732 0.400 13 32346841 stop gained C/G;T snv 12
rs80359200
BRCA2
0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06 12
rs1057520005
TP53
0.742 0.360 17 7673800 missense variant C/A;G snv 11
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 11
rs80358435
BRCA2
0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06 11
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06 11
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06 11
rs80358972
BRCA2
0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 11
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 10
rs397507404
BRCA2
0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 10
rs80358391
BRCA2
0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 10