Disease: Angle Closure Glaucoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 33
rs1015213 0.851 0.040 8 51974981 intron variant C/T snv 0.14 6
rs11024102
PLEKHA7
0.851 0.040 11 16987058 intron variant T/C snv 0.20 7
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1157699
CALCRL ; LOC105373786
0.925 0.040 2 187394177 intron variant C/G;T snv 2
rs11669977
NTF4
0.882 0.040 19 49060867 non coding transcript exon variant A/G snv 0.17 3
rs12138977
COL11A1
0.925 0.040 1 102927901 intron variant C/T snv 0.52 2
rs12493550
HTR3D
0.925 0.040 3 184034985 intron variant G/A snv 6.3E-02 2
rs12540393
HGF
0.925 0.040 7 81734871 intron variant C/T snv 0.77 2
rs1258267
C10orf53
0.925 0.040 10 49687724 intron variant G/A snv 0.95 2
rs1466441587
VAV3
0.882 0.040 1 107874935 missense variant G/A snv 7.0E-06 3
rs1676484
LOC107985096
0.925 0.040 1 102839465 intron variant A/C snv 2
rs17427817
HGF
0.925 0.040 7 81735119 intron variant C/A;G;T snv 2
rs1799750
WTAPP1 ; MMP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50 48
rs183532
MYOC
0.925 0.040 1 171640341 intron variant T/A;C snv 2
rs1900004
LINC02640
0.827 0.040 10 68241124 intron variant C/T snv 0.39 5
rs2156323
VAV2
0.882 0.040 9 133855699 intron variant G/A snv 9.2E-02 3
rs216489
PLEKHA7
0.925 0.040 11 16802189 intron variant G/A;T snv 2
rs2165241
LOXL1-AS1 ; LOXL1
0.716 0.360 15 73929861 intron variant T/C snv 0.60 15
rs235875
MYOC
0.925 0.040 1 171644616 intron variant C/T snv 0.16 2
rs235913
MYOC
0.925 0.040 1 171649516 intron variant T/C;G snv 2
rs2664538
MMP9
0.827 0.200 20 46011586 missense variant A/G snv 6
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
rs3735520
HGF
0.851 0.040 7 81771623 upstream gene variant G/A;T snv 4