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: rs1295713821
rs1295713821
COL4A4
1 1.000 0.160 2 227047549 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs104886047
rs104886047
COL4A5
1 1.000 0.160 X 108539754 stop gained T/C;G snv 4.9E-05 0.700 0
dbSNP: rs104886048
rs104886048
COL4A5
1 1.000 0.160 X 108539751 stop gained C/A snv 0.700 0
dbSNP: rs104886049
rs104886049
COL4A5 ; COL4A6
1 1.000 0.160 X 108440138 stop gained G/T snv 0.700 0
dbSNP: rs104886050
rs104886050
COL4A5 ; COL4A6
1 1.000 0.160 X 108440126 start lost A/G snv 0.700 0
dbSNP: rs104886051
rs104886051
COL4A5
1 1.000 0.160 X 108571416 stop gained G/T snv 0.700 0
dbSNP: rs104886052
rs104886052
COL4A5
1 1.000 0.160 X 108571458 missense variant G/A;C snv 0.700 0
dbSNP: rs104886057
rs104886057
COL4A5
1 1.000 0.160 X 108575956 missense variant G/A snv 0.700 0
dbSNP: rs104886059
rs104886059
COL4A5
1 1.000 0.160 X 108575911 missense variant G/T snv 0.700 0
dbSNP: rs104886070
rs104886070
COL4A5
1 1.000 0.160 X 108580543 missense variant G/A snv 0.700 0
dbSNP: rs104886071
rs104886071
COL4A5
1 1.000 0.160 X 108580548 stop gained C/G;T snv 2.2E-05 0.700 0
dbSNP: rs104886081
rs104886081
COL4A5
1 1.000 0.160 X 108581004 stop gained G/T snv 0.700 0
dbSNP: rs104886083
rs104886083
COL4A5
1 1.000 0.160 X 108581019 missense variant G/A snv 0.700 0
dbSNP: rs104886084
rs104886084
COL4A5
1 1.000 0.160 X 108582884 missense variant G/A snv 0.700 0
dbSNP: rs104886086
rs104886086
COL4A5
1 1.000 0.160 X 108582903 missense variant G/A snv 0.700 0
dbSNP: rs104886093
rs104886093
COL4A5
1 1.000 0.160 X 108584494 missense variant G/T snv 0.700 0
dbSNP: rs104886094
rs104886094
COL4A5
1 1.000 0.160 X 108586699 stop gained C/T snv 0.700 0
dbSNP: rs104886098
rs104886098
COL4A5
1 1.000 0.160 X 108586721 missense variant G/A snv 0.700 0
dbSNP: rs104886099
rs104886099
COL4A5
1 1.000 0.160 X 108591100 missense variant G/T snv 0.700 0
dbSNP: rs104886111
rs104886111
COL4A5
1 1.000 0.160 X 108591168 missense variant G/A snv 9.4E-06 0.700 0
dbSNP: rs104886112
rs104886112
COL4A5
1 1.000 0.160 X 108591178 missense variant G/A snv 0.700 0
dbSNP: rs104886115
rs104886115
COL4A5
1 1.000 0.160 X 108591627 missense variant G/A snv 0.700 0
dbSNP: rs104886122
rs104886122
COL4A5
1 1.000 0.160 X 108597043 missense variant G/A snv 0.700 0
dbSNP: rs104886124
rs104886124
COL4A5
1 1.000 0.160 X 108597069 splice donor variant G/- del 0.700 0
dbSNP: rs104886125
rs104886125
COL4A5
1 1.000 0.160 X 108597396 missense variant G/A snv 0.700 0