Disease: Endometriosis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32 62
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs4986938
ESR2
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 35
rs1256049
ESR2
0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 32
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 17
rs6165
FSHR
0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 14
rs1550117
DNMT3A
0.790 0.320 2 25343038 upstream gene variant A/G;T snv 11
rs2292596
AHRR
0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 7
rs7354779
DNMT3L ; DNMT3L-AS1
0.827 0.200 21 44250887 missense variant T/C snv 0.21 6
rs2276248
DNMT3L
1.000 0.040 21 44259375 intron variant T/C snv 6.1E-02 2