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: 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: rs11077
rs11077
POLR1C ; XPO5
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: 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: 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: rs1375722963
rs1375722963
PGRMC1
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014
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: 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: 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: rs14035
rs14035
RAN
15 0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2013 2013
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: 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: rs141185224
rs141185224
RET
2 0.925 0.080 10 43114681 missense variant G/A snv 1.1E-04 7.7E-05 0.010 1.000 1 2004 2004