Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.040 1.000 4 2008 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2009 2009
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2018 2018
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2015 2015
dbSNP: rs17576
rs17576
MMP9
0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.050 0.800 5 2009 2020
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs1001179
rs1001179
CAT
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2016 2016
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 1.000 2 2009 2020
dbSNP: rs2165241
rs2165241
LOXL1 ; LOXL1-AS1
0.716 0.360 15 73929861 intron variant T/C snv 0.60
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2008 2008
dbSNP: rs3825942
rs3825942
LOXL1 ; LOXL1-AS1
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2008 2008
dbSNP: rs1043618
rs1043618
HSPA1A ; HSPA1L
0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2016 2016
dbSNP: rs3918249
rs3918249
MMP9
0.807 0.200 20 46009497 intron variant T/C snv 0.41
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 1.000 2 2011 2016
dbSNP: rs3753841
rs3753841
COL11A1
0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.080 1.000 8 2013 2019
dbSNP: rs2664538
rs2664538
MMP9
0.827 0.200 20 46011586 missense variant A/G snv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 0.500 2 2006 2008
dbSNP: rs1900004
rs1900004
LINC02640
0.827 0.040 10 68241124 intron variant C/T snv 0.39
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2014 2014
dbSNP: rs4656461
rs4656461 		0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2014 2014
dbSNP: rs11024102
rs11024102
PLEKHA7
0.851 0.040 11 16987058 intron variant T/C snv 0.20
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.090 0.889 9 2013 2019
dbSNP: rs1015213
rs1015213 		0.851 0.040 8 51974981 intron variant C/T snv 0.14
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.050 1.000 5 2013 2019
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 1.000 2 2014 2019
dbSNP: rs3735520
rs3735520
HGF
0.851 0.040 7 81771623 upstream gene variant G/A;T snv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2013 2013
dbSNP: rs3788317
rs3788317
TXNRD2
0.851 0.040 22 19902302 intron variant G/T snv 0.30
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs3793342
rs3793342
NOS3
0.851 0.040 7 150998107 intron variant G/A snv 0.13
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2013 2013