Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7984952
USPL1
13 30657669 missense variant T/C snv 0.41 0.51 2
rs1057519827
ESR1
6 152011697 missense variant G/C snv 1
rs1389945622
EPM2AIP1 ; MLH1
3 36993560 missense variant G/A;C snv 1
rs146312682
LIMD1
3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 1
rs1704754
HSD17B7
1 162790761 5 prime UTR variant C/T snv 0.70 0.62 1
rs201498575
EGFR
7 55165359 missense variant G/A snv 4.0E-06 1
rs397507828
BRCA2
1.000 13 32340440 stop gained G/T snv 1
rs555016384
CCR6
6 167136139 missense variant G/A snv 4.0E-06 7.0E-06 1
rs55680408
BRCA1
17 43095875 missense variant T/A;C snv 3.6E-05 2.8E-05 1
rs587779003
MLH1
3 37004401 missense variant G/A;C snv 1
rs587782137
BRCA2
13 32316471 missense variant G/A;C snv 2.4E-05 1
rs730881360
ATM
11 108227629 missense variant G/A;C snv 1
rs786202676
CHEK2
22 28696956 missense variant T/A;G snv 1
rs2306969
LOC101928844 ; FUT3
0.925 0.040 19 5851790 intron variant A/G snv 0.76 4
rs876660254
TP53
0.882 0.040 17 7674963 missense variant G/T snv 4
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv 3
rs1213469537
CAV1
0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05 9
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 9
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06 5
rs11895168
ERBB4
0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 4
rs13283662
UHRF2
0.925 0.080 9 6428530 intron variant T/C snv 4
rs747489687
MCPH1
0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 4
rs7716600 0.925 0.080 5 44874903 regulatory region variant A/C;T snv 4
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv 3
rs1239905891
IGF1
0.925 0.080 12 102475786 missense variant G/A;T snv 3