Disease: Primary angle-closure glaucoma
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
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
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs2165241
LOXL1-AS1 ; LOXL1
0.716 0.360 15 73929861 intron variant T/C snv 0.60 15
rs3825942
LOXL1 ; LOXL1-AS1
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06 15
rs4656461 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 7
rs1900004
LINC02640
0.827 0.040 10 68241124 intron variant C/T snv 0.39 5
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13 4
rs11669977
NTF4
0.882 0.040 19 49060867 non coding transcript exon variant A/G snv 0.17 3
rs11720822
PDIA5
0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02 3
rs1466441587
VAV3
0.882 0.040 1 107874935 missense variant G/A snv 7.0E-06 3
rs2156323
VAV2
0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 3
rs2754511
BIRC6
0.882 0.040 2 32545090 intron variant A/T snv 0.24 3
rs2801219
VAV3
0.882 0.040 1 107959790 intron variant C/A snv 0.62 3
rs576499843
VAV3
0.882 0.040 1 107617607 missense variant A/C;G snv 8.0E-06 7.0E-06 3
rs61732310
NTF4
0.882 0.040 19 49061735 missense variant G/A snv 4.5E-03 2.3E-03 3