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: rs78972735
rs78972735
COL4A5
3 0.882 0.200 X 108622766 missense variant G/T snv 3.6E-03 1.3E-03 0.020 1.000 2 2017 2020
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs606231371
rs606231371
COL4A5
1 1.000 0.160 X 108681851 frameshift variant -/TCCT ins 0.700 0
dbSNP: rs587776403
rs587776403
COL4A5
2 0.925 0.160 X 108686130 splice donor variant G/A;C snv 5.6E-06 9.5E-06 0.700 0
dbSNP: rs587776402
rs587776402
COL4A5
2 0.925 0.160 X 108686030 splice acceptor variant G/A snv 0.700 0
dbSNP: rs587776401
rs587776401
COL4A5
1 1.000 0.160 X 108680957 splice donor variant G/A;C 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: rs483352870
rs483352870
COL4A5
1 1.000 0.160 X 108677634 splice donor variant G/C 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: rs397515496
rs397515496
COL4A5
1 1.000 0.160 X 108621803 missense variant G/T snv 5.5E-06 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: rs397515492
rs397515492
COL4A5
1 1.000 0.160 X 108655410 frameshift variant -/T ins 0.700 0
dbSNP: rs281874769
rs281874769
COL4A5
1 1.000 0.160 X 108582907 stop gained C/A 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: rs281874763
rs281874763
COL4A5
1 1.000 0.160 X 108578292 missense variant G/A snv 0.700 0
dbSNP: rs281874762
rs281874762
COL4A5
3 0.882 0.160 X 108578114 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs281874761
rs281874761
COL4A5
1 1.000 0.160 X 108578097 missense variant T/G 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: rs281874756
rs281874756
COL4A5
1 1.000 0.160 X 108575908 splice acceptor variant A/G snv 0.700 0
dbSNP: rs281874755
rs281874755
COL4A5
1 1.000 0.160 X 108573646 missense variant G/A snv 0.700 0
dbSNP: rs281874754
rs281874754
COL4A5
1 1.000 0.160 X 108696362 missense variant G/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: rs281874752
rs281874752
COL4A5
1 1.000 0.160 X 108696295 splice acceptor variant A/G snv 0.700 0
dbSNP: rs281874750
rs281874750
COL4A5
1 1.000 0.160 X 108695357 missense variant T/G snv 0.700 0
dbSNP: rs281874746
rs281874746
COL4A5
1 1.000 0.160 X 108694820 missense variant G/A snv 0.700 0