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: rs3847153
rs3847153 		2 0.925 0.080 8 100800928 intergenic variant A/G snv 0.13 0.810 1.000 2 2012 2014
dbSNP: rs3108910
rs3108910 		2 0.925 0.080 8 100800465 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs4323056
rs4323056 		1 1.000 0.080 4 155136200 intergenic variant G/A snv 0.70 0.700 1.000 1 2018 2018
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: rs246246
rs246246
ADAMTS19
3 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.710 1.000 2 2009 2013
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: 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: 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: 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: rs3884597
rs3884597
BBS9
2 0.925 0.080 7 33345650 intron variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs6944723
rs6944723
BBS9
2 0.925 0.080 7 33384348 intron variant T/A snv 0.42 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs17563
rs17563
BMP4
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.010 1.000 1 2014 2014
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: 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: rs757975291
rs757975291
BRD2
4 0.851 0.120 6 32976868 missense variant G/A snv 4.1E-06 7.0E-06 0.020 1.000 2 2004 2007
dbSNP: rs184752888
rs184752888
BRD2
4 0.882 0.120 6 32977847 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs765967593
rs765967593
BRD2
2 0.925 0.080 6 32976773 missense variant T/C snv 8.1E-06 0.010 1.000 1 2016 2016