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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.857 7 2009 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 0.857 7 2009 2015
dbSNP: rs13042395
rs13042395
SLC52A3
13 0.752 0.160 20 773867 intron variant C/T snv 5.9E-02 0.030 0.667 3 2012 2016
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 0.667 3 2013 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 2 2011 2016
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
11 0.763 0.160 7 55181312 missense variant G/T snv 0.700 1.000 2 2006 2014
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.020 1.000 2 2014 2016
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 0.500 2 2015 2016
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2012 2013
dbSNP: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.020 1.000 2 2015 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.020 1.000 2 2014 2019
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2013 2018
dbSNP: rs6682925
rs6682925
IL23R ; C1orf141
11 0.776 0.160 1 67165579 intron variant C/T snv 0.47 0.020 1.000 2 2012 2019
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs10088262
rs10088262
LOC105375739
2 0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1035142
rs1035142
FLACC1
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs10437048
rs10437048
PADI4
1 1.000 0.080 1 17356224 intron variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10509670
rs10509670
PLCE1
5 0.851 0.080 10 94308190 intron variant A/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519889
rs1057519889
EP300
6 0.807 0.200 22 41169525 missense variant G/A;T snv 0.700 1.000 1 2016 2016