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: rs104886346
rs104886346
COL4A5
1 1.000 0.160 X 108603023 inframe deletion AAGGCCCTCCTGGGCCACCCG/- delins 0.700 0
dbSNP: rs104886314
rs104886314
COL4A5
1 1.000 0.160 X 108584526 splice region variant AAGT/- delins 0.700 0
dbSNP: rs104886356
rs104886356
COL4A5
2 0.925 0.160 X 108614979 inframe deletion ACCACCAGG/- delins 0.700 0
dbSNP: rs104886390
rs104886390
COL4A5
1 1.000 0.160 X 108568785 inframe deletion ACCTCAAGG/- delins 0.700 0
dbSNP: rs1556412101
rs1556412101
COL4A5
1 1.000 0.160 X 108597062 splice donor variant ATTACCAGTAAGTTTTGAGTATATTATAAAACAAAAAGAAGTAGAAGGAAGGCATTTTACACATTGATTTTCAATTATTCATATATATACACACATATACAATTTAATTTTTCCATTAAGTTGTACTTTGTTTGATTCCTTGACTCTTCCTGACTCACATGCCTCACTTGATTCAGCCCTTTGTACATTAAATGTTATTGGATGGGTTGAAGGGGTAAACTGGAGAGAAGAAAATGTTAGAAAAAAAGAAACTGATTTTCTTTTTCTCTTTCTTCTTTTTCCACTCTTTTTTCTTTTTTTCCTTACTCATTTCAGGGCATTCCA/- del 0.700 0
dbSNP: rs104886128
rs104886128
COL4A5
1 1.000 0.160 X 108597442 frameshift variant C/- del 0.700 0
dbSNP: rs104886175
rs104886175
COL4A5
1 1.000 0.160 X 108606844 frameshift variant C/- delins 0.700 0
dbSNP: rs104886113
rs104886113
COL4A5
2 0.925 0.160 X 108591592 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs104886048
rs104886048
COL4A5
1 1.000 0.160 X 108539751 stop gained C/A snv 0.700 0
dbSNP: rs104886292
rs104886292
COL4A5
1 1.000 0.160 X 108692800 stop gained C/A snv 0.700 0
dbSNP: rs104886437
rs104886437
COL4A5
1 1.000 0.160 X 108578075 splice region variant C/A snv 0.700 0
dbSNP: rs281874769
rs281874769
COL4A5
1 1.000 0.160 X 108582907 stop gained C/A snv 0.700 0
dbSNP: rs104886387
rs104886387
COL4A5
1 1.000 0.160 X 108665496 intron variant C/A;G snv 2.0E-04 0.700 0
dbSNP: rs104886222
rs104886222
COL4A5
1 1.000 0.160 X 108626315 stop gained C/G snv 0.700 0
dbSNP: rs104886345
rs104886345
COL4A5
1 1.000 0.160 X 108602961 splice region variant C/G snv 0.700 0
dbSNP: rs104886383
rs104886383
COL4A5
1 1.000 0.160 X 108667124 intron variant C/G snv 0.700 0
dbSNP: rs104886441
rs104886441
COL4A5
1 1.000 0.160 X 108578288 splice region variant C/G 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: rs104886164
rs104886164
COL4A5
2 0.925 0.160 X 108603032 missense variant C/G;T snv 1.2E-03 0.700 0
dbSNP: rs1295713821
rs1295713821
COL4A4
1 1.000 0.160 2 227047549 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs104886094
rs104886094
COL4A5
1 1.000 0.160 X 108586699 stop gained C/T snv 0.700 0
dbSNP: rs104886194
rs104886194
COL4A5
1 1.000 0.160 X 108622696 stop gained C/T snv 0.700 0
dbSNP: rs104886207
rs104886207
COL4A5
1 1.000 0.160 X 108625734 stop gained C/T snv 0.700 0
dbSNP: rs104886213
rs104886213
COL4A5
1 1.000 0.160 X 108626284 stop gained C/T snv 0.700 0