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: rs10088262
rs10088262
LOC105375739
2 0.925 0.160 8 123753462 intergenic variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs11191865
rs11191865
STN1
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2009 2009
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs12765878
rs12765878
STN1
2 0.925 0.160 10 103909864 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs13078
rs13078
DICER1
5 0.827 0.280 14 95090410 3 prime UTR variant A/T snv 0.85 0.010 1.000 1 2015 2015
dbSNP: rs1321311
rs1321311 		15 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1378286181
rs1378286181
TCF3
1 1.000 0.120 19 1632076 missense variant C/G snv 7.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs1665650
rs1665650
HSPA12A
12 0.752 0.160 10 116727589 intron variant T/C snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2494938
rs2494938
LRFN2
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
18 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs28366003
rs28366003
MT2A
10 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs3742330
rs3742330
DICER1
24 0.662 0.640 14 95087025 3 prime UTR variant A/G snv 8.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs4725443
rs4725443
KMT2C
2 0.925 0.120 7 152170176 intron variant T/C snv 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs56161233
rs56161233
SH3BP4
2 0.925 0.120 2 235055489 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs5744455
rs5744455
CD14 ; TMCO6
5 0.882 0.160 5 140633722 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs59336
rs59336
TBX3
10 0.776 0.160 12 114678547 intron variant T/A;G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs6877842
rs6877842
DROSHA ; C5orf22
7 0.807 0.320 5 31532531 intron variant G/C snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs6943984
rs6943984
KMT2C
2 0.925 0.120 7 152201919 intron variant G/A snv 0.11 0.010 1.000 1 2016 2016