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: rs104886241
rs104886241
COL4A5
1 1.000 0.160 X 108666579 stop gained C/T snv 0.700 0
dbSNP: rs104886283
rs104886283
COL4A5
2 0.925 0.160 X 108687647 missense variant C/T snv 0.700 0
dbSNP: rs104886286
rs104886286
COL4A5
1 1.000 0.160 X 108692924 stop gained C/T snv 0.700 0
dbSNP: rs104886306
rs104886306
COL4A5
1 1.000 0.160 X 108696349 stop gained C/T snv 0.700 0
dbSNP: rs104886405
rs104886405
COL4A5
1 1.000 0.160 X 108681867 stop gained C/T snv 0.700 0
dbSNP: rs281874657
rs281874657
COL4A5
3 0.925 0.160 X 108586717 stop gained C/T snv 0.700 0
dbSNP: rs281874661
rs281874661
COL4A5
1 1.000 0.160 X 108591111 stop gained C/T snv 0.700 0
dbSNP: rs281874676
rs281874676
COL4A5
1 1.000 0.160 X 108597527 stop gained C/T snv 0.700 0
dbSNP: rs281874727
rs281874727
COL4A5
2 1.000 0.160 X 108681837 stop gained C/T snv 0.700 0
dbSNP: rs281874741
rs281874741
COL4A5
1 1.000 0.160 X 108687685 stop gained C/T snv 0.700 0
dbSNP: rs281874753
rs281874753
COL4A5
2 0.925 0.160 X 108696340 stop gained C/T snv 0.700 0
dbSNP: rs104886321
rs104886321
COL4A5
1 1.000 0.160 X 108591587 inframe deletion CCCCCCAGG/- delins 0.700 0
dbSNP: rs104886124
rs104886124
COL4A5
1 1.000 0.160 X 108597069 splice donor variant G/- del 0.700 0
dbSNP: rs104886152
rs104886152
COL4A5
1 1.000 0.160 X 108601401 frameshift variant G/- delins 0.700 0
dbSNP: rs104886156
rs104886156
COL4A5
1 1.000 0.160 X 108601462 frameshift variant G/- del 0.700 0
dbSNP: rs104886162
rs104886162
COL4A5
2 0.925 0.160 X 108602963 splice acceptor variant G/- delins 0.700 0
dbSNP: rs104886256
rs104886256
COL4A5
1 1.000 0.160 X 108668504 splice donor variant G/- delins 0.700 0
dbSNP: rs104886091
rs104886091
COL4A5
2 0.925 0.160 X 108582921 missense variant G/A snv 0.710 1.000 1 1992 1992
dbSNP: rs104886186
rs104886186
COL4A5
2 0.925 0.160 X 108620303 missense variant G/A snv 0.710 1.000 1 1996 1996
dbSNP: rs104886057
rs104886057
COL4A5
1 1.000 0.160 X 108575956 missense variant G/A snv 0.700 0
dbSNP: rs104886067
rs104886067
COL4A5
2 0.925 0.160 X 108578078 missense variant G/A snv 0.700 0
dbSNP: rs104886068
rs104886068
COL4A5
2 0.925 0.160 X 108578319 missense variant G/A snv 0.700 0
dbSNP: rs104886070
rs104886070
COL4A5
1 1.000 0.160 X 108580543 missense variant G/A snv 0.700 0
dbSNP: rs104886075
rs104886075
COL4A5
2 0.925 0.160 X 108578087 missense variant G/A snv 0.700 0
dbSNP: rs104886080
rs104886080
COL4A5
2 0.925 0.160 X 108580983 missense variant G/A snv 0.700 0