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
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
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs1800796
IL6-AS1 ; STEAP1B ; IL6
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs11556218
IL16
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs6166
FSHR
0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 17
rs700518
CYP19A1 ; MIR4713HG
0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 13