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: rs2241715
rs2241715
TGFB1
4 0.851 0.120 19 41350981 5 prime UTR variant A/C snv 0.68 0.010 1.000 1 2015 2015
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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 1.000 2 2008 2014
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 0.500 2 2018 2019
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
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: rs1051861187
rs1051861187
ABCB4
6 0.827 0.080 7 87409385 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1234220
rs1234220
PTEN
4 0.851 0.080 10 87885716 intron variant A/G snv 9.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2014 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2014 2014
dbSNP: rs230530
rs230530
NFKB1
4 0.882 0.080 4 102532823 intron variant A/G snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2016 2016
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
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
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: 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: rs1682111
rs1682111
ACYP2
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.020 1.000 2 2017 2019
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015
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: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014