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: rs121908359
rs121908359
FOXL2 ; FOXL2NB
4 0.851 0.240 3 138946163 missense variant C/T snv 4.5E-05 7.0E-06 0.010 1.000 1 2009 2009
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: rs3773661
rs3773661
TGFBR2
2 0.925 0.080 3 30686798 intron variant G/C snv 0.14 0.010 1.000 1 2014 2014
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: rs4323056
rs4323056 		1 1.000 0.080 4 155136200 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs587778430
rs587778430
KDR
7 0.807 0.280 4 55110466 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
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: 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: rs246246
rs246246
ADAMTS19
3 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.710 1.000 2 2009 2013
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: 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: 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: rs1205723048
rs1205723048
GDF9
3 0.882 0.080 5 132862308 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
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: 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: rs155979
rs155979
PCSK1 ; LOC101929710
2 0.925 0.080 5 96434194 intron variant G/A;C snv 0.010 1.000 1 2014 2014
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: rs2278493
rs2278493
HK3
2 0.925 0.080 5 176887433 intron variant C/T snv 0.36 0.29 0.010 1.000 1 2014 2014
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: rs28943592
rs28943592
HSD17B4
2 0.925 0.080 5 119536489 missense variant C/T snv 7.0E-03 2.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs3762986
rs3762986
PCSK1 ; LOC101929710
2 0.925 0.080 5 96435158 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs573335459
rs573335459
GDF9
2 0.925 0.080 5 132864335 missense variant T/G snv 2.0E-04 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs6877842
rs6877842
DROSHA ; C5orf22
7 0.807 0.320 5 31532531 intron variant G/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs722910
rs722910
FST
2 0.925 0.080 5 53485767 3 prime UTR variant A/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs770542892
rs770542892
GDF9
2 0.925 0.080 5 132862366 synonymous variant T/C;G snv 8.0E-06; 1.6E-05 0.010 1.000 1 2007 2007