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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
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
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
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
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
rs1042714
ADRB2
0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 54
rs1050450
GPX1
0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs3856806
PPARG
0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 41
rs1137100
LEPR
0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 39
rs8192678
PPARGC1A
0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 28
rs5219
KCNJ11
0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 25
rs2295490
TRIB3
0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 16
rs700518
CYP19A1 ; MIR4713HG
0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 13
rs316019
SLC22A2
0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 8
rs2059806
INSR
0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 7
rs2858060
MIR222 ; MIR221
0.925 0.160 X 45747602 intron variant G/A;C snv 2