Gene: COL4A5 ×
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: rs104886079
rs104886079
COL4A5
1 1.000 X 108580731 missense variant G/A snv 0.800 1.000 22 1991 2014
dbSNP: rs104886134
rs104886134
COL4A5
2 0.925 0.160 X 108598835 missense variant G/A;C;T snv 0.800 1.000 22 1991 2014
dbSNP: rs104886140
rs104886140
COL4A5
2 0.925 0.160 X 108598748 missense variant G/A;T snv 0.800 1.000 22 1991 2014
dbSNP: rs104886228
rs104886228
COL4A5
1 1.000 X 108665560 missense variant G/A;T snv 0.800 1.000 22 1991 2014
dbSNP: rs104886255
rs104886255
COL4A5
2 0.925 0.160 X 108668435 missense variant G/C;T snv 0.800 1.000 22 1991 2014
dbSNP: rs104886282
rs104886282
COL4A5
1 1.000 X 108687641 missense variant G/A;C;T snv 0.800 1.000 22 1991 2014
dbSNP: rs104886297
rs104886297
COL4A5
2 0.925 0.160 X 108694905 missense variant G/A;T snv 0.800 1.000 22 1991 2016
dbSNP: rs104886043
rs104886043
COL4A5
1 1.000 X 108559083 missense variant G/A snv 0.800 1.000 21 1991 2014
dbSNP: rs104886055
rs104886055
COL4A5
2 0.925 0.160 X 108573628 missense variant G/C snv 0.700 1.000 21 1991 2014
dbSNP: rs104886056
rs104886056
COL4A5
2 0.925 0.160 X 108573637 missense variant G/C;T snv 0.700 1.000 21 1991 2014
dbSNP: rs104886060
rs104886060
COL4A5
2 0.925 0.160 X 108575937 missense variant G/A;T snv 0.700 1.000 21 1991 2014
dbSNP: rs104886063
rs104886063
COL4A5
2 0.925 0.160 X 108577953 missense variant G/A;T snv 0.800 1.000 21 1991 2014
dbSNP: rs104886067
rs104886067
COL4A5
2 0.925 0.160 X 108578078 missense variant G/A snv 0.700 1.000 21 1991 2014
dbSNP: rs104886068
rs104886068
COL4A5
2 0.925 0.160 X 108578319 missense variant G/A snv 0.700 1.000 21 1991 2014
dbSNP: rs104886069
rs104886069
COL4A5
1 1.000 X 108580542 missense variant G/C snv 0.700 1.000 21 1991 2014
dbSNP: rs104886073
rs104886073
COL4A5
1 1.000 X 108580721 missense variant G/C snv 0.700 1.000 21 1991 2014
dbSNP: rs104886075
rs104886075
COL4A5
2 0.925 0.160 X 108578087 missense variant G/A snv 0.700 1.000 21 1991 2014
dbSNP: rs104886076
rs104886076
COL4A5
2 0.925 0.160 X 108578291 missense variant G/C snv 0.700 1.000 21 1991 2014
dbSNP: rs104886078
rs104886078
COL4A5
2 0.925 0.160 X 108580722 missense variant G/T snv 0.700 1.000 21 1991 2014
dbSNP: rs104886080
rs104886080
COL4A5
2 0.925 0.160 X 108580983 missense variant G/A snv 0.700 1.000 21 1991 2014
dbSNP: rs104886085
rs104886085
COL4A5
2 0.925 0.160 X 108582902 missense variant G/C snv 0.700 1.000 21 1991 2014
dbSNP: rs104886088
rs104886088
COL4A5
3 0.882 0.160 X 108582920 stop gained G/A;T snv 0.800 1.000 21 1991 2014
dbSNP: rs104886091
rs104886091
COL4A5
2 0.925 0.160 X 108582921 missense variant G/A snv 0.800 1.000 21 1991 2014
dbSNP: rs104886092
rs104886092
COL4A5
2 0.925 0.160 X 108584485 missense variant G/T snv 0.700 1.000 21 1991 2014
dbSNP: rs104886096
rs104886096
COL4A5
2 0.925 0.160 X 108586676 missense variant G/A snv 0.800 1.000 21 1991 2014