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: 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: 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: 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: 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: 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: 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: 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: rs4323056
rs4323056 		1 1.000 0.080 4 155136200 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
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: 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: rs1057519602
rs1057519602
SGO2
1 1.000 0.080 2 200571796 frameshift variant GA/- delins 0.700 0
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
dbSNP: rs1376873864
rs1376873864
BRD2
2 0.925 0.080 6 32976646 missense variant G/A snv 4.1E-06 0.030 0.667 3 2006 2010
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: 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: rs3847153
rs3847153 		2 0.925 0.080 8 100800928 intergenic variant A/G snv 0.13 0.810 1.000 2 2012 2014
dbSNP: rs104894765
rs104894765
BMP15
2 0.925 0.160 X 50916132 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1049127
rs1049127
LAG3
2 0.925 0.080 12 6777854 missense variant T/C snv 0.010 1.000 1 2015 2015
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: rs11773504
rs11773504
BBS9
2 0.925 0.080 7 33349101 missense variant G/A snv 0.21 0.18 0.010 1.000 1 2008 2008
dbSNP: rs12611091
rs12611091
BRSK1
2 0.925 0.080 19 55288961 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs13172105
rs13172105
ADAMTS16 ; LOC101929200
2 0.925 0.080 5 5289469 intron variant A/C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1321108
rs1321108
TSHB
2 0.925 0.080 1 115029744 upstream gene variant A/G snv 0.42 0.010 < 0.001 1 2014 2014
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: rs1375722963
rs1375722963
PGRMC1
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014