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: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 < 0.001 1 2019 2019
dbSNP: rs6472827
rs6472827
LOC105375903
2 1.000 8 74207107 intron variant T/C snv 0.86 0.700 1.000 1 2017 2017
dbSNP: rs4335411
rs4335411
PGBD2
3 1.000 1 248897507 regulatory region variant G/A snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs2131371
rs2131371
LOC100288798
3 1.000 12 46402739 intron variant A/C snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs9419958
rs9419958
STN1
5 0.851 0.040 10 103916188 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs4957014
rs4957014
PDCD6 ; AHRR
11 0.752 0.160 5 287899 intron variant T/G snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2005 2005
dbSNP: rs928554
rs928554
ESR2
6 0.851 0.120 14 64227477 3 prime UTR variant C/T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2019 2019
dbSNP: rs2785152
rs2785152
LOC105376626
2 1.000 11 35048521 intergenic variant C/T snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs4944957
rs4944957
NADSYN1
2 1.000 0.080 11 71456989 intron variant A/G snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs739187
rs739187
LOC105373024
2 1.000 22 37332213 regulatory region variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs35417544
rs35417544
GREB1 ; MIR4429
2 1.000 2 11540277 intron variant C/T snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs6861925
rs6861925
HK3
2 1.000 5 176897728 intron variant G/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs920778
rs920778
HOTAIR
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2785202
rs2785202
LOC105376626
2 1.000 11 35063288 regulatory region variant G/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs2732552
rs2732552
LOC105376626
3 0.925 0.080 11 35063045 regulatory region variant T/C snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2011 2017
dbSNP: rs3087869
rs3087869
COMT
1 22 19953984 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs4247357
rs4247357
CCDC57
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 2 2012 2016
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2007 2017
dbSNP: rs10929757
rs10929757
GREB1
2 1.000 2 11562535 missense variant A/C snv 0.54 0.44 0.700 1.000 1 2018 2018
dbSNP: rs12392108
rs12392108 		2 1.000 X 132180234 intergenic variant T/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2015 2015