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: rs12918952
rs12918952
WWOX
7 0.851 0.120 16 78386878 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
dbSNP: rs1455751791
rs1455751791
ESR1
3 0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2010 2010
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825
HMGB1
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2253319
rs2253319
RUNX1
3 0.882 0.120 21 34815749 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2622621
rs2622621
ABCG2
6 0.851 0.240 4 88109768 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs3020449
rs3020449
ESR2
10 0.807 0.200 14 64306674 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs3741219
rs3741219
MRPL23 ; H19 ; HOTS
10 0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs3801004
rs3801004
FSCN1
3 0.882 0.120 7 5598591 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3809865
rs3809865
ITGB3 ; THCAT158
11 0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3829078
rs3829078
CA9
6 0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs438034
rs438034
CENPF
4 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs4671393
rs4671393
BCL11A
11 0.790 0.400 2 60493816 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4693608
rs4693608
HPSE
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs4719839
rs4719839
LOC105375199 ; LOC105375200
4 0.882 0.120 7 25946953 downstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs559635697
rs559635697
RHOBTB2
1 1.000 0.080 8 23007068 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2008 2008