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: 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
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: rs139382539
rs139382539
SALL4
1 1.000 0.040 20 51791942 missense variant C/T snv 4.5E-04 5.2E-04 0.010 1.000 1 2019 2019
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: rs141218518
rs141218518
BMP15
2 0.925 0.080 X 50916009 missense variant T/C snv 2.0E-03 1.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs141502483
rs141502483
NR5A1
2 0.925 0.080 9 124500191 missense variant C/T snv 3.3E-05 2.8E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs1435998287
rs1435998287
SF1
2 0.925 0.080 11 64778294 synonymous variant C/T snv 1.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs146180399
rs146180399
CITED2
2 0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04 0.010 1.000 1 2012 2012
dbSNP: rs147630867
rs147630867
PGRMC1
2 0.925 0.080 X 119243160 missense variant A/G snv 1.1E-03 1.2E-03 0.010 1.000 1 2008 2008
dbSNP: rs1554563822
rs1554563822
NBN
1 1.000 0.040 8 89970389 stop gained G/A snv 0.700 1.000 1 2018 2018
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: rs1569788
rs1569788
ESR1
2 0.925 0.080 6 152007481 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1611114
rs1611114
DBH
3 0.882 0.120 9 133635081 upstream gene variant C/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs17003221
rs17003221
BMP15
2 0.925 0.080 X 50916280 synonymous variant C/T snv 5.8E-02 0.14 0.010 1.000 1 2015 2015
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: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2011 2011
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: rs199538689
rs199538689
NOBOX
2 0.925 0.080 7 144399832 missense variant C/T snv 3.4E-04 2.9E-04 0.010 1.000 1 2007 2007
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: 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: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2012 2012
dbSNP: rs2227914
rs2227914
DMC1
2 0.925 0.080 22 38538601 missense variant T/C snv 8.6E-03 3.5E-02 0.010 1.000 1 2008 2008
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