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: rs104886050
rs104886050
COL4A5 ; COL4A6
1 1.000 0.160 X 108440126 start lost A/G 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: rs281874765
rs281874765
COL4A5 ; COL4A6
1 1.000 0.160 X 108440207 splice donor variant G/C snv 0.700 0
dbSNP: rs104886048
rs104886048
COL4A5
1 1.000 0.160 X 108539751 stop gained C/A snv 0.700 0
dbSNP: rs104886047
rs104886047
COL4A5
1 1.000 0.160 X 108539754 stop gained T/C;G snv 4.9E-05 0.700 0
dbSNP: rs104886323
rs104886323
COL4A5
1 1.000 0.160 X 108559063 splice acceptor variant G/A snv 0.700 0
dbSNP: rs104886349
rs104886349
COL4A5
1 1.000 0.160 X 108559154 splice donor variant G/A snv 9.4E-06 0.700 0
dbSNP: rs104886350
rs104886350
COL4A5
1 1.000 0.160 X 108563881 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs104886365
rs104886365
COL4A5
2 0.925 0.160 X 108563931 splice region variant G/A;T snv 0.700 0
dbSNP: rs281874706
rs281874706
COL4A5
1 1.000 0.160 X 108568638 missense variant G/A snv 0.700 0
dbSNP: rs104886375
rs104886375
COL4A5
1 1.000 0.160 X 108568758 splice acceptor variant G/A snv 0.700 0
dbSNP: rs104886390
rs104886390
COL4A5
1 1.000 0.160 X 108568785 inframe deletion ACCTCAAGG/- delins 0.700 0
dbSNP: rs104886396
rs104886396
COL4A5
1 1.000 0.160 X 108570694 intron variant G/A snv 0.700 0
dbSNP: rs104886395
rs104886395
COL4A5
1 1.000 0.160 X 108571412 splice acceptor variant G/C snv 0.700 0
dbSNP: rs281874723
rs281874723
COL4A5
2 0.925 0.160 X 108571414 missense variant G/A;T 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: rs281874737
rs281874737
COL4A5
1 1.000 0.160 X 108571459 missense variant G/A snv 0.700 0
dbSNP: rs281874738
rs281874738
COL4A5
1 1.000 0.160 X 108571468 splice donor variant T/C snv 0.700 0
dbSNP: rs281874739
rs281874739
COL4A5
1 1.000 0.160 X 108571471 splice region variant G/A snv 0.700 0
dbSNP: rs104886414
rs104886414
COL4A5
1 1.000 0.160 X 108573562 intron variant G/A snv 0.700 0
dbSNP: rs104886416
rs104886416
COL4A5
1 1.000 0.160 X 108573572 splice acceptor variant A/G snv 0.700 0
dbSNP: rs104886055
rs104886055
COL4A5
2 0.925 0.160 X 108573628 missense variant G/C snv 0.700 0
dbSNP: rs104886056
rs104886056
COL4A5
2 0.925 0.160 X 108573637 missense variant G/C;T snv 0.700 0
dbSNP: rs281874755
rs281874755
COL4A5
1 1.000 0.160 X 108573646 missense variant G/A snv 0.700 0