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: rs2296651
rs2296651
SLC10A1
13 0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2018 2018
dbSNP: rs937283
rs937283
MDM2
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs1046282
rs1046282
ERCC1 ; PPP1R13L ; CD3EAP
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12732894
rs12732894
ARHGEF10L
3 0.882 0.080 1 17582733 intron variant G/A snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1476081557
rs1476081557
KMT2B
3 0.882 0.080 19 35721455 missense variant G/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115
CD44
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs2244444
rs2244444
ARHGEF10L
3 0.882 0.080 1 17520426 intergenic variant C/T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs3212948
rs3212948
ERCC1
10 0.776 0.160 19 45421104 intron variant G/C snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs3811741
rs3811741
PLK4
3 0.882 0.080 4 127882004 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs4024
rs4024
AFP
7 0.827 0.120 4 73435667 intron variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs5854292
rs5854292
EGFEM1P
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs587782237
rs587782237
TP53
3 0.882 0.080 17 7670637 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs737241
rs737241
AFP
7 0.827 0.120 4 73451012 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs745501336
rs745501336
RAB43 ; ISY1-RAB43
3 0.882 0.080 3 129091263 missense variant C/T snv 4.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs764555290
rs764555290
KRT6A
3 0.882 0.080 12 52492759 missense variant G/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs769031989
rs769031989
STAT3
4 0.851 0.160 17 42322464 missense variant T/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs779555087
rs779555087
HNF4A
3 0.882 0.080 20 44414561 missense variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2020 2020