Disease: Polycystic Ovary Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs2910164
MIR3142HG ; MIR146A
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1800629
TNF
0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 169
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41 98
rs7903146
TCF7L2
0.554 0.680 10 112998590 intron variant C/G;T snv 93
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs4994
ADRB3
0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 65
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs7975232
VDR
0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 56
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 53
rs1501299
ADIPOQ ; ADIPOQ-AS1
0.597 0.720 3 186853334 intron variant G/C;T snv 52