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: rs766779326
rs766779326
ESR1
2 1.000 0.040 6 151944344 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1770474
rs1770474
TNKS2
3 0.925 0.080 10 91833770 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs181696
rs181696
PLCH1
3 0.925 0.080 3 155548315 intron variant T/C snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs7309332
rs7309332 		3 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs755683317
rs755683317
TPTE
3 21 10567746 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs778826879
rs778826879
MAPK3
3 16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs112290073
rs112290073
TERT
4 0.882 0.080 5 1285917 intron variant G/A snv 7.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs125555
rs125555
MBD1
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.010 1.000 1 2005 2005
dbSNP: rs1347093
rs1347093
MIR217HG ; LOC105374690
4 0.882 0.080 2 56019205 intron variant G/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs138895564
rs138895564
TERT
4 0.882 0.080 5 1271959 intron variant C/T snv 5.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs1397529
rs1397529
GAB1
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs139852726
rs139852726
LPCAT1
4 0.882 0.080 5 1462734 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs199905033
rs199905033
IL6ST
4 0.882 0.080 5 55964205 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs2269577
rs2269577
XBP1 ; ZNRF3
4 0.882 0.120 22 28800769 non coding transcript exon variant G/C snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs751144688
rs751144688
CD44
4 1.000 0.080 11 35206195 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 1.000 1 2005 2005
dbSNP: rs759435862
rs759435862
KIDINS220
5 0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05 0.020 1.000 2 2011 2016
dbSNP: rs1057519696
rs1057519696
ALK
5 1.000 0.040 2 29214054 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1367644026
rs1367644026
KRT5
5 0.925 0.080 12 52520259 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2070803
rs2070803
TRIM46
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.010 1.000 1 2017 2017