Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854543
rs137854543
CTSA
1 1.000 0.080 20 45897736 missense variant A/G snv 0.820 1.000 6 1991 2000
dbSNP: rs137854541
rs137854541
CTSA ; SPATA25 ; NEURL2
1 1.000 0.080 20 45891714 missense variant A/G snv 7.0E-06 0.810 1.000 5 1991 2008
dbSNP: rs137854544
rs137854544
CTSA
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.800 1.000 5 1991 2014
dbSNP: rs137854542
rs137854542
CTSA ; SPATA25 ; NEURL2
1 1.000 0.080 20 45891990 missense variant C/T snv 0.800 1.000 4 1991 2000
dbSNP: rs137854545
rs137854545
CTSA ; SPATA25 ; NEURL2
2 0.925 0.080 20 45892434 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 4 1991 2000
dbSNP: rs28934603
rs28934603
CTSA ; SPATA25 ; NEURL2
1 1.000 0.080 20 45891761 stop lost T/C snv 0.800 1.000 4 1991 2000
dbSNP: rs137854549
rs137854549
CTSA
2 0.925 0.080 20 45898107 missense variant A/G snv 0.710 1.000 4 1991 2000
dbSNP: rs786200859
rs786200859
CTSA
2 1.000 0.080 20 45893314 splice region variant A/G snv 0.700 1.000 5 1993 2016
dbSNP: rs137854540
rs137854540
CTSA
2 0.925 0.080 20 45898068 missense variant T/G snv 8.0E-06 2.1E-05 0.700 1.000 4 1991 2000
dbSNP: rs137854546
rs137854546
CTSA
2 0.925 0.080 20 45894002 missense variant T/C snv 0.700 1.000 4 1991 2000
dbSNP: rs137854547
rs137854547
CTSA
2 0.925 0.080 20 45898065 missense variant G/A snv 1.2E-05 0.700 1.000 4 1991 2000
dbSNP: rs137854548
rs137854548
CTSA
2 0.925 0.080 20 45897769 missense variant T/A;C snv 0.700 1.000 4 1991 2000
dbSNP: rs538562022
rs538562022
CTSA ; SPATA25 ; NEURL2
1 1.000 0.080 20 45891720 missense variant C/A;G snv 8.0E-06; 8.0E-06 0.700 1.000 4 1991 2000
dbSNP: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs587779402
rs587779402
CTSA ; SPATA25 ; NEURL2
1 1.000 0.080 20 45891949 frameshift variant C/- delins 0.700 0
dbSNP: rs1325406157
rs1325406157
GLB1 ; LOC107986073
1 1.000 0.080 3 33018542 missense variant T/C snv 4.0E-06 0.030 1.000 3 1998 2003
dbSNP: rs72555365
rs72555365
GLB1 ; LOC107986073
2 0.925 0.120 3 33016744 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs72555390
rs72555390
GLB1
6 0.807 0.160 3 33072637 missense variant A/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs754790691
rs754790691
GLB1
1 1.000 0.080 3 33068890 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2008 2008