Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2479106
rs2479106
DENND1A
0.851 0.120 9 123762933 intron variant A/G snv 0.44
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.900 0.833 11 2011 2019
dbSNP: rs13405728
rs13405728
LHCGR ; STON1-GTF2A1L
0.790 0.200 2 48751020 intron variant A/G snv 0.15
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.900 0.818 10 2011 2019
dbSNP: rs13429458
rs13429458
THADA
0.827 0.200 2 43411699 intron variant A/C snv 0.14
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.890 0.800 9 2011 2019
dbSNP: rs10818854
rs10818854
DENND1A
0.851 0.200 9 123684499 intron variant G/A snv 5.7E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.830 1.000 3 2011 2018
dbSNP: rs2059807
rs2059807
INSR
0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.830 0.500 3 2011 2020
dbSNP: rs12478601
rs12478601
THADA
0.851 0.200 2 43494369 intron variant C/T snv 0.61
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.820 0.750 2 2011 2019
dbSNP: rs2268361
rs2268361
FSHR
1.000 0.120 2 48974473 intron variant C/T snv 0.53
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.810 1.000 1 2012 2015
dbSNP: rs2272046
rs2272046
HMGA2
1.000 0.120 12 65830681 intron variant A/C snv 2.1E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.810 1.000 1 2012 2018
dbSNP: rs3802457
rs3802457
AOPEP
1.000 0.120 9 94979054 intron variant G/A snv 8.5E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.810 1.000 1 2012 2015
dbSNP: rs705702
rs705702
RAB5B ; SUOX
1.000 0.120 12 55996852 upstream gene variant A/G snv 0.24
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.810 1.000 1 2012 2016
dbSNP: rs10986105
rs10986105
DENND1A
0.925 0.200 9 123787676 intron variant T/G snv 6.9E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.730 1.000 3 2011 2018
dbSNP: rs4385527
rs4385527
AOPEP
0.827 0.280 9 94886305 intron variant G/A snv 0.31
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.720 1.000 2 2012 2015
dbSNP: rs11031006
rs11031006
LOC105376607
0.882 0.120 11 30204981 intron variant G/A snv 0.11
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.710 1.000 1 2015 2015
dbSNP: rs1351592
rs1351592
ERBB4
1.000 0.120 2 212529988 intron variant C/G snv 0.29
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.710 1.000 1 2015 2017
dbSNP: rs2349415
rs2349415
FSHR
1.000 0.120 2 49020693 intron variant T/C snv 0.63
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.710 1.000 1 2012 2015
dbSNP: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.789 19 2002 2019
dbSNP: rs1801278
rs1801278
IRS1
0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.833 18 2001 2017
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.778 18 2002 2013
dbSNP: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.750 12 2009 2018
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.727 11 2004 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.900 10 2003 2019
dbSNP: rs6165
rs6165
FSHR
0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 0.700 10 2001 2017
dbSNP: rs6166
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.090 0.667 9 2001 2017
dbSNP: rs7903146
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.090 0.444 9 2007 2017
dbSNP: rs1805097
rs1805097
IRS2
0.689 0.360 13 109782884 missense variant C/G;T snv 0.35
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.080 0.875 8 2001 2016