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: rs3108910
rs3108910 		2 0.925 0.080 8 100800465 intergenic variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs3847153
rs3847153 		2 0.925 0.080 8 100800928 intergenic variant A/G snv 0.13 0.010 1.000 1 2014 2014
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 0.010 1.000 1 2013 2013
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: 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: 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: 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: 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: 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
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: rs10061133
rs10061133
CDC20B ; MIR449A ; MIR449B
4 0.851 0.160 5 55170716 mature miRNA variant A/G snv 0.11 8.6E-02 0.010 1.000 1 2016 2016
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: 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: rs10046
rs10046
CYP19A1 ; MIR4713HG
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.020 1.000 2 2011 2011
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 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: rs1195471902
rs1195471902
DDC ; FIGNL1
1 1.000 0.040 7 50463419 missense variant C/T snv 4.0E-06 0.010 1.000 1 2000 2000
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