COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886303
rs104886303
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		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: rs104886308
rs104886308
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		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: rs281874663
rs281874663
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		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: rs281874743
rs281874743
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		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: rs104886043
rs104886043
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886063
rs104886063
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886079
rs104886079
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886088
rs104886088
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886091
rs104886091
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886096
rs104886096
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886121
rs104886121
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886134
rs104886134
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886134
rs104886134
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		A 0.800 CausalMutation CLINVAR Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome. 22921432 2012
dbSNP: rs104886140
rs104886140
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886142
rs104886142
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886163
rs104886163
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886189
rs104886189
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886225
rs104886225
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886229
rs104886229
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886237
rs104886237
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886255
rs104886255
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886282
rs104886282
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886287
rs104886287
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886293
rs104886293
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012
dbSNP: rs104886297
rs104886297
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C4746986
Disease:
ALPORT SYNDROME 1, X-LINKED 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Alport syndrome. 22166944 2012