Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2019 2019
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2019 2019
dbSNP: rs11246050
rs11246050
NLRP6
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1137282
rs1137282
KRAS
5 0.851 0.120 12 25209843 missense variant A/G;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913238
rs121913238
KRAS
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1319984849
rs1319984849
EZH1
1 1.000 0.080 17 42727721 frameshift variant G/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1347591
rs1347591
NUP93
2 1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1394069156
rs1394069156
CHEK2
1 1.000 0.080 22 28703554 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1467664274
rs1467664274
CHEK2
1 1.000 0.080 22 28695186 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1755787
rs1755787 		1 1.000 0.080 14 36235879 upstream gene variant A/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1863347
rs1863347 		1 1.000 0.080 14 36242363 intergenic variant G/A snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs2066992
rs2066992
IL6 ; IL6-AS1
6 0.807 0.200 7 22728630 non coding transcript exon variant G/T snv 9.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs2286742
rs2286742
HABP2
2 1.000 0.080 10 113580733 intron variant G/A;C snv 0.57; 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs2288496
rs2288496
TSHR ; LOC101928462
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2019 2019
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2019 2019