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: rs1553387851
rs1553387851
LHCGR ; GTF2A1L ; STON1-GTF2A1L
2 0.925 0.200 2 48698772 frameshift variant G/- delins 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 0.020 1.000 2 1998 2002
dbSNP: rs121909661
rs121909661
FSHR
2 0.925 0.200 2 48963566 missense variant C/T snv 4.0E-06 0.020 1.000 2 2002 2015
dbSNP: rs121908653
rs121908653
WNT4 ; LOC105376845
2 0.925 0.200 1 22142888 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs12190966
rs12190966
FBXO30 ; LOC100507557
1 1.000 0.040 6 145825684 intron variant T/G snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1286391250
rs1286391250
NANOS3
1 1.000 0.040 19 13877606 missense variant G/A snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs1440086679
rs1440086679
BRD2
2 0.925 0.120 6 32979854 missense variant C/T snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs386833511
rs386833511
FSHR
3 0.882 0.200 2 48963097 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs757975291
rs757975291
BRD2
4 0.851 0.120 6 32976868 missense variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs954579305
rs954579305
RBMS3
1 1.000 0.040 3 29739726 missense variant G/A snv 0.010 1.000 1 2014 2014