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: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs121913121
rs121913121
FH
6 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
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: rs863224007
rs863224007
FH
4 0.882 0.320 1 241502490 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1182554992
rs1182554992
ESR1
1 6 151880688 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2006 2006
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: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.040 1.000 4 2008 2016
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2009 2009
dbSNP: rs200960801
rs200960801
ESR1
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs3020449
rs3020449
ESR2
10 0.807 0.200 14 64306674 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.010 1.000 1 2010 2010
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: rs2280543
rs2280543
BET1L
3 0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02 0.830 1.000 4 2011 2018
dbSNP: rs12484776
rs12484776
TNRC6B
2 1.000 22 40256869 intron variant A/G snv 0.19 0.820 1.000 3 2011 2018
dbSNP: rs7913069
rs7913069
LOC102724351
2 1.000 10 103954641 intergenic variant C/T snv 7.0E-02 0.810 1.000 2 2011 2017
dbSNP: rs4247357
rs4247357
CCDC57
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 2 2012 2016
dbSNP: rs605059
rs605059
HSD17B1 ; LOC108783654
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.020 1.000 2 2012 2015
dbSNP: rs676387
rs676387
HSD17B1 ; LOC108783654
6 0.882 0.120 17 42554255 non coding transcript exon variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs8191246
rs8191246
HSD17B2
2 1.000 0.080 16 82098435 stop lost A/G snv 1.3E-02 1.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
3 0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3756712
rs3756712
PDCD6 ; AHRR
10 0.790 0.160 5 308981 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2013 2013
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