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: rs2747648
rs2747648
ESR1
2 0.925 0.080 6 152101200 3 prime UTR variant C/T snv 0.98 0.010 1.000 1 2012 2012
dbSNP: rs56333866
rs56333866
PIP4K2A
1 1.000 0.080 10 22581150 intron variant TTTC/- delins 0.97 0.700 1.000 1 2017 2017
dbSNP: rs132390
rs132390
EMID1 ; LOC105372985
2 0.925 0.080 22 29225488 intron variant C/T snv 0.96 0.700 1.000 3 2013 2017
dbSNP: rs828200
rs828200 		2 0.925 0.080 13 90718206 regulatory region variant C/T snv 0.96 0.010 1.000 1 2014 2014
dbSNP: rs2206593
rs2206593
PTGS2
3 0.925 0.080 1 186673297 3 prime UTR variant A/G snv 0.95 0.010 < 0.001 1 2015 2015
dbSNP: rs4896011
rs4896011
TCF21
2 0.925 0.080 6 133893615 3 prime UTR variant A/T snv 0.94 0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.030 0.667 3 2017 2018
dbSNP: rs1189020
rs1189020
LINC02284
1 1.000 0.080 14 56410241 intron variant T/G snv 0.93 0.700 1.000 1 2019 2019
dbSNP: rs11085735
rs11085735
KEAP1
2 0.925 0.080 19 10491504 intron variant A/C snv 0.92 0.010 1.000 1 2015 2015
dbSNP: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2017 2017
dbSNP: rs2665390
rs2665390
TIPARP ; LOC107986148
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs861529
rs861529
KLC1 ; XRCC3
2 0.925 0.080 14 103712977 3 prime UTR variant T/C snv 0.91 0.010 1.000 1 2007 2007
dbSNP: rs1858826
rs1858826
GNGT1
3 1.000 0.080 7 93719703 intron variant C/T snv 0.90 0.700 1.000 1 2018 2018
dbSNP: rs1230666
rs1230666
MAGI3
2 0.925 0.200 1 113630788 intron variant A/G snv 0.90 0.700 1.000 1 2017 2017
dbSNP: rs7558475
rs7558475
CFLAR
2 0.925 0.080 2 201171755 3 prime UTR variant G/A snv 0.90 0.010 1.000 1 2017 2017
dbSNP: rs6453204
rs6453204
SV2C
2 1.000 0.080 5 76143375 intron variant A/G snv 0.90 0.700 1.000 1 2014 2014
dbSNP: rs7766238
rs7766238
TCF21
2 0.925 0.080 6 133893438 3 prime UTR variant A/G snv 0.90 0.010 1.000 1 2016 2016
dbSNP: rs6556756
rs6556756
LINC02143 ; LOC105377703
3 0.882 0.160 5 164462274 intron variant G/T snv 0.89 0.700 1.000 1 2007 2007
dbSNP: rs6721961
rs6721961
NFE2L2
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2012 2012
dbSNP: rs1802904
rs1802904
ATR ; XRN1
2 0.925 0.080 3 142449489 synonymous variant C/T snv 0.86 0.89 0.010 1.000 1 2013 2013
dbSNP: rs1952246
rs1952246
RAD51B ; LOC105370546
1 1.000 0.080 14 68165095 intron variant G/A snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs1958115
rs1958115
RAD51B
1 1.000 0.080 14 68170948 intron variant C/A snv 0.89 0.700 1.000 1 2012 2012
dbSNP: rs198580
rs198580
RB1
2 0.925 0.080 13 48459611 intron variant G/A snv 0.89 0.010 1.000 1 2006 2006
dbSNP: rs1675126
rs1675126
INCENP
3 0.925 0.080 11 62138902 synonymous variant T/C snv 0.84 0.88 0.010 1.000 1 2015 2015