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: 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: rs17003221
rs17003221
BMP15
2 0.925 0.080 X 50916280 synonymous variant C/T snv 5.8E-02 0.14 0.020 1.000 2 2015 2019
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: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs1375722963
rs1375722963
PGRMC1
2 0.925 0.080 X 119243222 missense variant C/T snv 0.010 1.000 1 2014 2014
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: 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: rs3810682
rs3810682
BMP15
2 0.925 0.080 X 50910775 5 prime UTR variant C/G snv 0.16 0.19 0.010 1.000 1 2015 2015
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2019 2019
dbSNP: rs6609533
rs6609533
SYN1 ; TIMP1 ; MIR4769
7 0.790 0.200 X 47585887 3 prime UTR variant A/G;T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs75398746
rs75398746
POF1B
3 0.882 0.080 X 85308188 missense variant C/T snv 2.7E-03 3.5E-03 0.010 1.000 1 2011 2011
dbSNP: rs782609889
rs782609889
BMP15
2 0.925 0.080 X 50916386 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs79377927
rs79377927
BMP15
2 0.925 0.080 X 50916217 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2014 2017
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: 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: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2015 2015
dbSNP: rs768687295
rs768687295
MCM8
1 1.000 0.080 20 5984849 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10407022
rs10407022
AMH ; MIR4321
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.010 < 0.001 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: rs12611091
rs12611091
BRSK1
2 0.925 0.080 19 55288961 intron variant T/A;C snv 0.010 1.000 1 2014 2014
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: 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: 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: rs2277698
rs2277698
TIMP2 ; CEP295NL
6 0.807 0.320 17 78870935 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2019 2019