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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2016
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: 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: rs20558
rs20558
LAMC1
2 0.925 0.080 1 183125412 missense variant T/C snv 0.58 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2228363
rs2228363
TGFBR3
2 0.925 0.080 1 91698089 missense variant G/A snv 6.7E-03 6.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2013 2013
dbSNP: rs7530810
rs7530810
TSHB
2 0.925 0.080 1 115027847 upstream gene variant G/A snv 0.39 0.010 < 0.001 1 2014 2014
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: rs121909658
rs121909658
FSHR
8 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.050 1.000 5 1998 2010
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: 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: 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: 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: rs369140654
rs369140654
FIGLA
2 0.925 0.080 2 70787786 missense variant G/A;T snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs71647803
rs71647803
FIGLA
2 0.925 0.080 2 70790628 missense variant G/A;T snv 1.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs7566476
rs7566476
FIGLA
2 0.925 0.080 2 70785602 missense variant C/G snv 0.63 0.65 0.010 1.000 1 2015 2015
dbSNP: rs770254254
rs770254254
GCG ; LOC101929532
2 0.925 0.080 2 162147505 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1057519602
rs1057519602
SGO2
1 1.000 0.080 2 200571796 frameshift variant GA/- delins 0.700 0
dbSNP: rs1057516159
rs1057516159
FOXL2 ; FOXL2NB
6 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011