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: rs1906953
rs1906953
GRM4
4 0.882 0.040 6 34068669 intron variant C/T snv 0.25 0.820 1.000 3 2013 2016
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 < 0.001 2 2014 2016
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs4150441
rs4150441
ERCC3
5 0.882 0.040 2 127283339 intron variant T/C snv 0.37 0.020 1.000 2 2016 2017
dbSNP: rs454006
rs454006
PRKCG
3 0.882 0.040 19 53886867 intron variant T/C snv 0.36 0.020 1.000 2 2014 2015
dbSNP: rs7034162
rs7034162
NFIB
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.720 1.000 2 2015 2019
dbSNP: rs7591996
rs7591996 		3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.810 1.000 2 2013 2014
dbSNP: rs1005464
rs1005464
BMP2
5 0.882 0.040 20 6775501 intron variant G/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs12146774
rs12146774
LOC105370025
1 1.000 0.040 12 119235698 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
TP53
14 0.732 0.160 17 7674089 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1295925
rs1295925
VMP1
3 0.882 0.040 17 59832902 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs16948627
rs16948627
ITGA3
4 0.882 0.040 17 50063432 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1872328
rs1872328
ACYP2
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1989839
rs1989839
RASSF1 ; ZMYND10
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2075559
rs2075559
COL1A1
3 0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2086452
rs2086452
ADAMTS17
1 1.000 0.040 15 100188458 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2236947
rs2236947
RASSF1
3 0.882 0.040 3 50334001 intron variant C/A snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs235764
rs235764
BMP2
3 0.882 0.040 20 6773599 intron variant G/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs3787547
rs3787547
BCAS1
3 0.882 0.040 20 54067899 intron variant G/A snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs4150506
rs4150506
ERCC3
4 0.851 0.120 2 127262970 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs4778889
rs4778889
IL16
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 < 0.001 1 2016 2016