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: 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: 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: rs104894767
rs104894767
BMP15
3 0.882 0.160 X 50915966 missense variant G/A;T snv 1.0E-02; 2.3E-04 0.020 1.000 2 2010 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: rs1057516159
rs1057516159
FOXL2 ; FOXL2NB
6 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
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: 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: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2011 2011
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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
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: rs1375722963
rs1375722963
PGRMC1
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs140531439
rs140531439
WNT4
2 0.925 0.080 1 22129830 synonymous variant C/A;T snv 1.2E-05; 3.2E-05 0.010 < 0.001 1 2012 2012
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: 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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
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: rs201947677
rs201947677
NOBOX
3 0.882 0.080 7 144399847 missense variant C/G;T snv 4.0E-06; 1.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs3108910
rs3108910 		2 0.925 0.080 8 100800465 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
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: rs3884597
rs3884597
BBS9
2 0.925 0.080 7 33345650 intron variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2016 2016