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: rs113994016
rs113994016
EIF2B2
2 0.925 0.080 14 75006701 missense variant A/G snv 2.0E-05 0.700 1.000 1 2018 2018
dbSNP: rs1554563822
rs1554563822
NBN
1 1.000 0.040 8 89970389 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1553546045
rs1553546045
PTH2R
5 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0
dbSNP: rs1558502635
rs1558502635
PREPL
1 1.000 0.040 2 44339161 frameshift variant GTTCTCCAACATTAGTGAGAATGTATAATTCATCATCTCTGTGTTCAACATAGTAAAGGACCCCATGTATTCGCT/TAAAA delins 0.700 0
dbSNP: rs1560311010
rs1560311010
TP63
1 1.000 0.040 3 189894253 stop gained G/A snv 0.700 0
dbSNP: rs764841861
rs764841861
STAG3 ; CASTOR3
3 0.925 0.040 7 100204096 stop gained C/T snv 6.0E-05 1.4E-05 0.700 0
dbSNP: rs900140738
rs900140738
TP63
1 1.000 0.040 3 189894239 stop gained C/A;T snv 7.0E-06 0.700 0
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 0.030 1.000 3 1998 2010
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: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.030 1.000 3 1998 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: 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: 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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs254286
rs254286
GDF9
2 0.925 0.080 5 132862507 synonymous variant G/A snv 0.52 0.50 0.020 1.000 2 2007 2015
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: 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: rs104894124
rs104894124
NR5A1
2 0.925 0.160 9 124503353 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs1049127
rs1049127
LAG3
2 0.925 0.080 12 6777854 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs10491279
rs10491279
GDF9
3 0.882 0.080 5 132862408 synonymous variant C/T snv 0.14 0.17 0.010 1.000 1 2015 2015
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: rs1057516159
rs1057516159
FOXL2 ; FOXL2NB
6 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
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: 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