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: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2016
dbSNP: rs10061133
rs10061133
CDC20B ; MIR449A ; MIR449B
4 0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs765967593
rs765967593
BRD2
2 0.925 0.080 6 32976773 missense variant T/C snv 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs768687295
rs768687295
MCM8
1 1.000 0.080 20 5984849 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs8019270
rs8019270
TBPL2
2 1.000 0.080 14 55440454 missense variant C/A;G;T snv 4.0E-06; 0.63; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs254286
rs254286
GDF9
2 0.925 0.080 5 132862507 synonymous variant G/A snv 0.52 0.50 0.020 1.000 2 2007 2015
dbSNP: rs1049127
rs1049127
LAG3
2 0.925 0.080 12 6777854 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10491279
rs10491279
GDF9
3 0.882 0.080 5 132862408 synonymous variant C/T snv 0.14 0.17 0.010 1.000 1 2015 2015
dbSNP: rs138136756
rs138136756
GDF9
3 0.882 0.080 5 132864365 missense variant C/A snv 1.8E-03 5.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2015 2015
dbSNP: rs184752888
rs184752888
BRD2
4 0.882 0.120 6 32977847 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs199831511
rs199831511
AMH ; MIR4321
1 1.000 0.080 19 2251138 missense variant C/G;T snv 1.1E-03; 7.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs254285
rs254285
GDF9
2 0.925 0.080 5 132862595 intron variant C/G snv 0.83 0.89 0.010 1.000 1 2015 2015
dbSNP: rs369140654
rs369140654
FIGLA
2 0.925 0.080 2 70787786 missense variant G/A;T snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs3810682
rs3810682
BMP15
2 0.925 0.080 X 50910775 5 prime UTR variant C/G snv 0.16 0.19 0.010 1.000 1 2015 2015
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2015 2015
dbSNP: rs7566476
rs7566476
FIGLA
2 0.925 0.080 2 70785602 missense variant C/G snv 0.63 0.65 0.010 1.000 1 2015 2015
dbSNP: rs79377927
rs79377927
BMP15
2 0.925 0.080 X 50916217 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs12720062
rs12720062
INHA
2 0.925 0.080 2 219575194 missense variant G/A snv 2.3E-02 1.7E-02 0.080 0.625 8 2002 2014