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: rs104894124
rs104894124
NR5A1
2 0.925 0.160 9 124503353 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs135029
rs135029
TIMP3 ; SYN3
2 0.925 0.080 22 32844303 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs139382539
rs139382539
SALL4
1 1.000 0.040 20 51791942 missense variant C/T snv 4.5E-04 5.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs2277698
rs2277698
TIMP2 ; CEP295NL
6 0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2019 2019
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2019 2019
dbSNP: rs6609533
rs6609533
SYN1 ; TIMP1 ; MIR4769
7 0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs755503899
rs755503899
SALL4
1 1.000 0.040 20 51790204 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs113994016
rs113994016
EIF2B2
2 0.925 0.080 14 75006701 missense variant A/G snv 2.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs1554563822
rs1554563822
NBN
1 1.000 0.040 8 89970389 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs9999820
rs9999820
NPY2R
2 0.925 0.080 4 155197173 intron variant A/G snv 0.66 0.010 1.000 1 2018 2018
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: 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: rs17003221
rs17003221
BMP15
2 0.925 0.080 X 50916280 synonymous variant C/T snv 5.8E-02 0.14 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: 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