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: rs104886325
rs104886325
COL4A5
1 1.000 0.160 X 108591106 frameshift variant -/A ins 0.700 0
dbSNP: rs104886432
rs104886432
COL4A5
1 1.000 0.160 X 108575908 splice region variant -/G delins 0.700 0
dbSNP: rs397515492
rs397515492
COL4A5
1 1.000 0.160 X 108655410 frameshift variant -/T ins 0.700 0
dbSNP: rs397515494
rs397515494
COL4A5
1 1.000 0.160 X 108695116 non coding transcript exon variant -/T ins 0.700 0
dbSNP: rs606231371
rs606231371
COL4A5
1 1.000 0.160 X 108681851 frameshift variant -/TCCT ins 0.700 0
dbSNP: rs104886204
rs104886204
COL4A5
2 0.925 0.160 X 108624258 frameshift variant A/- delins 0.700 0
dbSNP: rs104886343
rs104886343
COL4A5
1 1.000 0.160 X 108601992 splice region variant A/C snv 0.700 0
dbSNP: rs104886341
rs104886341
COL4A5
1 1.000 0.160 X 108601867 intron variant A/C;G snv 8.4E-06 0.700 0
dbSNP: rs104886050
rs104886050
COL4A5 ; COL4A6
1 1.000 0.160 X 108440126 start lost A/G snv 0.700 0
dbSNP: rs104886193
rs104886193
COL4A5
1 1.000 0.160 X 108621871 missense variant A/G snv 0.700 0
dbSNP: rs104886319
rs104886319
COL4A5
1 1.000 0.160 X 108591559 splice acceptor variant A/G snv 0.700 0
dbSNP: rs104886344
rs104886344
COL4A5
1 1.000 0.160 X 108602962 splice acceptor variant A/G snv 0.700 0
dbSNP: rs104886379
rs104886379
COL4A5
1 1.000 0.160 X 108626208 splice acceptor variant A/G snv 0.700 0
dbSNP: rs104886385
rs104886385
COL4A5
1 1.000 0.160 X 108668317 splice acceptor variant A/G 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: rs281874691
rs281874691
COL4A5
1 1.000 0.160 X 108606891 splice region variant A/G snv 0.700 0
dbSNP: rs281874752
rs281874752
COL4A5
1 1.000 0.160 X 108696295 splice acceptor variant A/G snv 0.700 0
dbSNP: rs281874756
rs281874756
COL4A5
1 1.000 0.160 X 108575908 splice acceptor variant A/G snv 0.700 0
dbSNP: rs397515497
rs397515497
COL4A5
1 1.000 0.160 X 108626206 splice region variant A/G snv 0.700 0
dbSNP: rs587776400
rs587776400
COL4A5
1 1.000 0.160 X 108680677 splice acceptor variant A/G snv 0.700 0
dbSNP: rs104886397
rs104886397
COL4A5
1 1.000 0.160 X 108680883 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs281874758
rs281874758
COL4A5
2 0.925 0.160 X 108577950 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs104886233
rs104886233
COL4A5
1 1.000 0.160 X 108655373 stop gained A/T snv 0.700 0
dbSNP: rs104886260
rs104886260
COL4A5
1 1.000 0.160 X 108680712 stop gained A/T snv 0.700 0
dbSNP: rs281874662
rs281874662
COL4A5
1 1.000 0.160 X 108591114 stop gained A/T snv 0.700 0