LOXL1, lysyl oxidase like 1, 4016

N. diseases: 93; N. variants: 27
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3825942
rs3825942
0.716 0.320 15 73927241 missense variant G/A;C;T snv 0.18; 4.5E-06
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.900 0.955 44 2007 2019
dbSNP: rs893818
rs893818
1.000 0.040 15 73936854 intron variant G/A snv 0.29
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.810 1.000 2 2014 2019
dbSNP: rs2165241
rs2165241
0.716 0.360 15 73929861 intron variant T/C snv 0.60
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.800 1.000 23 2008 2019
dbSNP: rs12441138
rs12441138
1.000 0.040 15 73951556 intron variant G/A snv 5.6E-02
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12594472
rs12594472
1.000 0.040 15 73934799 intron variant A/T snv 8.4E-02
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1550437
rs1550437
1.000 0.040 15 73928957 intron variant C/T snv 0.31
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs16958494
rs16958494
1.000 0.040 15 73939008 intron variant C/T snv 3.6E-02
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1992314
rs1992314
0.925 0.040 15 73931426 intron variant C/G snv 0.29
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs4886776
rs4886776
1.000 0.040 15 73932655 intron variant G/A snv 0.28
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs893816
rs893816
1.000 0.040 15 73936123 intron variant C/A;T snv
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs893821
rs893821
1.000 0.040 15 73948894 intron variant T/C snv 0.23
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1048661
rs1048661
0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.100 0.892 37 2008 2019
dbSNP: rs41435250
rs41435250
0.925 0.040 15 73927743 synonymous variant G/T snv 6.1E-02 3.7E-02
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.020 1.000 2 2013 2019
dbSNP: rs16958477
rs16958477
0.925 0.040 15 73926125 5 prime UTR variant A/C snv 0.33
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3522
rs3522
1.000 0.040 15 73952003 3 prime UTR variant C/T snv 0.48
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7173049
rs7173049
1.000 0.040 15 73952269 downstream gene variant A/G;T snv
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
Eye Diseases 0.010 1.000 1 2019 2019