Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1675126
INCENP
0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 3
rs1704754
HSD17B7
1 162790761 5 prime UTR variant C/T snv 0.70 0.62 1
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 27
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs228648
UTS2
0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 13
rs6505162
NSRP1 ; MIR3184 ; MIR423
0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 25
rs8133052
CBR3 ; CBR3-AS1
0.925 0.120 21 36135203 missense variant G/A;C snv 0.44 6
rs7984952
USPL1
13 30657669 missense variant T/C snv 0.41 0.51 2
rs1056892
CBR3-AS1 ; CBR3
0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 6
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs1801725
CASR
0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 39
rs35490896
CLSPN
0.925 0.080 1 35736984 missense variant G/A snv 5.5E-02 6.5E-02 3
rs28997576
BARD1
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 11
rs56391007
MET
0.752 0.200 7 116771936 missense variant C/T snv 7.9E-03 9.0E-03 16
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs138213197
HOXB13
0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 24
rs35766612
TGFBR2
3 30672342 missense variant G/A;T snv 1.0E-03; 3.5E-04 1
rs146312682
LIMD1
3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 1
rs137853011
CHEK2
0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 16
rs747489687
MCPH1
0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 4
rs80357906
BRCA1
0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04 8
rs80356923
BRCA1
0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05 5