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: 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: 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
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1065827
rs1065827 		1 16 65949614 intergenic variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs12800438
rs12800438
NADSYN1
5 1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3087869
rs3087869
COMT
1 22 19953984 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs4646422
rs4646422
CYP1A1
5 0.882 0.120 15 74722964 missense variant C/T snv 1.1E-02 3.4E-03 0.010 1.000 1 2014 2014
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: rs528311784
rs528311784
COMT ; MIR4761
1 22 19962807 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6058017
rs6058017
AHCY ; ASIP
2 20 34269192 3 prime UTR variant A/G snv 0.15 0.29 0.010 1.000 1 2014 2014