Disease: Endometriosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1181860747
INSR
0.776 0.240 19 7122961 missense variant C/T snv 10
rs1805097
IRS2
0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 22
rs11556218
IL16
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 35
rs5882
CETP
0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 35
rs1799964
LTA ; LOC100287329 ; TNF
0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 47
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs11549465
HIF1A-AS3 ; HIF1A
0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs11614913
HOXC6 ; MIR196A2
0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
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
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174