Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49 1
rs35628
ABCC1
1.000 0.080 16 16077249 intron variant A/G snv 0.13 1
rs779151375
SDHA
5 236507 missense variant A/G snv 8.0E-06 1.4E-05 1
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 1
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 1
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 45
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv 8
rs121913494
GNAS
0.827 0.240 20 58909541 missense variant A/G;T snv 3
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 3
rs63751094
MLH1
0.925 0.160 3 36996624 stop lost A/G;T snv 3
rs121913390
CSF1R
5 150073481 stop gained A/G;T snv 2
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 2
rs1057519698
ALK
0.827 0.120 2 29222347 missense variant A/G;T snv 1
rs931676601
ERBB3
12 56097196 missense variant A/G;T snv 1
rs1057519854
FGFR2
0.882 0.080 10 121488063 missense variant A/T snv 5
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv 2
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 1
rs121908585
PDGFRA
0.827 0.080 4 54285926 missense variant A/T snv 1
rs121913316
STK11
1.000 0.080 19 1220489 missense variant A/T snv 1
rs63751617
MSH2
0.925 0.160 2 47429742 missense variant A/T snv 1
rs1057519843
APC
5 112839522 frameshift variant AAGATTGGAAC/- del 1
rs1057519844
APC
5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 1
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 1
rs886039920
BRCA1
0.807 0.160 17 43115755 frameshift variant ACAGG/- delins 1
rs876659253
BRCA1
1.000 17 43094296 frameshift variant ACAT/TG delins 2