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: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.040 1.000 4 1998 2019
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 1.000 3 1998 2019
dbSNP: rs17003221
rs17003221
BMP15
2 0.925 0.080 X 50916280 synonymous variant C/T snv 5.8E-02 0.14 0.020 1.000 2 2015 2019
dbSNP: rs1001164504
rs1001164504
FIGLA
1 1.000 0.080 2 70790637 start lost A/G snv 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs11668344
rs11668344
TMEM150B
4 0.925 0.120 19 55322296 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1209004897
rs1209004897
BRCA1
1 1.000 0.080 17 43094660 missense variant A/C snv 7.0E-06 0.010 < 0.001 1 2019 2019
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: rs1369921577
rs1369921577
FSHR
1 1.000 0.080 2 48968759 missense variant T/C snv 4.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1394205
rs1394205
FSHR
3 0.925 0.120 2 49154446 5 prime UTR variant C/T snv 0.32 0.28 0.010 1.000 1 2019 2019
dbSNP: rs140106399
rs140106399
FSHR
1 1.000 0.080 2 48962622 3 prime UTR variant A/G snv 7.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs148279853
rs148279853
FSHR
2 0.925 0.080 2 49068234 missense variant C/G;T snv 5.5E-04; 4.0E-06 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: rs755187051
rs755187051
MRPS18C ; ABRAXAS1
1 1.000 0.080 4 83463563 missense variant G/C snv 2.4E-05 3.5E-05 0.010 < 0.001 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: rs140949366
rs140949366
GJA4 ; SMIM12 ; LOC105378642
1 1.000 0.080 1 34795159 missense variant G/A snv 2.1E-03 8.4E-03 0.010 1.000 1 2018 2018
dbSNP: rs4323056
rs4323056 		1 1.000 0.080 4 155136200 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs753345594
rs753345594
MRPS22
4 0.851 0.160 3 139350279 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs9999820
rs9999820
NPY2R
2 0.925 0.080 4 155197173 intron variant A/G snv 0.66 0.700 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2014 2017
dbSNP: rs1060505055
rs1060505055
MSH5 ; MSH5-SAPCD1
2 0.925 0.080 6 31759476 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1376736747
rs1376736747
FSHR
1 1.000 0.080 2 49068268 stop gained G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs147021911
rs147021911
FANCM
9 0.763 0.320 14 45189123 stop gained C/T snv 1.2E-03 1.0E-03 0.010 1.000 1 2017 2017