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: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.030 1.000 3 2018 2019
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: 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: 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: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 0.500 2 2014 2015
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.020 1.000 2 2008 2014
dbSNP: rs843645
rs843645
ACYP2
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.020 1.000 2 2017 2019
dbSNP: rs843720
rs843720
ACYP2 ; LOC105374610
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.020 1.000 2 2017 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2016 2016
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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
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: 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: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
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: rs16901979
rs16901979
PCAT1 ; CASC19
17 0.724 0.480 8 127112671 intron variant C/A snv 0.16 0.010 1.000 1 2008 2008
dbSNP: rs1760893
rs1760893
TEP1
6 0.807 0.080 14 20412501 intron variant C/A snv 0.89 0.010 1.000 1 2016 2016
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: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
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: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2015 2015
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