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: 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: 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: 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: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 1998 1998
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: 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: 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: 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: 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: 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
dbSNP: rs782609889
rs782609889
BMP15
2 0.925 0.080 X 50916386 missense variant T/G snv 0.010 1.000 1 2006 2006
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: 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: rs1205723048
rs1205723048
GDF9
3 0.882 0.080 5 132862308 missense variant C/T snv 4.0E-06 0.010 1.000 1 2007 2007
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: rs573335459
rs573335459
GDF9
2 0.925 0.080 5 132864335 missense variant T/G snv 2.0E-04 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs770542892
rs770542892
GDF9
2 0.925 0.080 5 132862366 synonymous variant T/C;G snv 8.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
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: 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: 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