Gene: COL4A5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886297
rs104886297
COL4A5
T 0.800 CausalMutation CLINVAR Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. 26809805

2016
dbSNP: rs104886043
rs104886043
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886063
rs104886063
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886079
rs104886079
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886088
rs104886088
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886091
rs104886091
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886096
rs104886096
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886121
rs104886121
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886134
rs104886134
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886140
rs104886140
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886140
rs104886140
COL4A5
A 0.800 CausalMutation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs104886142
rs104886142
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886163
rs104886163
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886189
rs104886189
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886225
rs104886225
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886228
rs104886228
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886229
rs104886229
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886237
rs104886237
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886255
rs104886255
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886255
rs104886255
COL4A5
C 0.800 CausalMutation CLINVAR Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 24033287

2014
dbSNP: rs104886282
rs104886282
COL4A5
A 0.800 CausalMutation CLINVAR Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain. 24304881

2014
dbSNP: rs104886282
rs104886282
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886287
rs104886287
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886293
rs104886293
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014
dbSNP: rs104886297
rs104886297
COL4A5
0.800 GeneticVariation UNIPROT Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing. 24522658

2014