Gene: MFF-DT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200672668
rs200672668
COL4A3 ; MFF-DT
A 0.800 GeneticVariation CLINVAR Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 11134255

2001
dbSNP: rs200672668
rs200672668
COL4A3 ; MFF-DT
A 0.800 GeneticVariation CLINVAR COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 24052634

2013
dbSNP: rs201697532
rs201697532
COL4A3 ; MFF-DT
T 0.800 GeneticVariation CLINVAR

dbSNP: rs375040636
rs375040636
COL4A3 ; MFF-DT
A 0.800 GeneticVariation CLINVAR Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. 15954103

2005
dbSNP: rs1060499654
rs1060499654
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499654
rs1060499654
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. 25307543

2015
dbSNP: rs1060499654
rs1060499654
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome. 22887978

2012
dbSNP: rs1114167371
rs1114167371
COL4A3 ; MFF-DT
A 0.700 CausalMutation CLINVAR

dbSNP: rs1158937060
rs1158937060
COL4A3 ; MFF-DT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1196996393
rs1196996393
COL4A3 ; MFF-DT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121912824
rs121912824
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. 14582039

2003
dbSNP: rs121912824
rs121912824
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 7987301

1994
dbSNP: rs121912825
rs121912825
COL4A3 ; MFF-DT
G 0.700 GeneticVariation CLINVAR Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. 7987301

1994
dbSNP: rs121912825
rs121912825
COL4A3 ; MFF-DT
G 0.700 CausalMutation CLINVAR

dbSNP: rs121912825
rs121912825
COL4A3 ; MFF-DT
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121912827
rs121912827
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. 25307543

2015
dbSNP: rs1274459294
rs1274459294
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1306992119
rs1306992119
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014
dbSNP: rs1346138010
rs1346138010
COL4A3 ; MFF-DT
T 0.700 CausalMutation CLINVAR

dbSNP: rs1346138010
rs1346138010
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 11134255

2001
dbSNP: rs1346138010
rs1346138010
COL4A3 ; MFF-DT
T 0.700 GeneticVariation CLINVAR COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. 24052634

2013
dbSNP: rs1351781261
rs1351781261
COL4A3 ; MFF-DT
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1363680371
rs1363680371
COL4A3 ; MFF-DT
CT 0.700 GeneticVariation CLINVAR The clinical spectrum of type IV collagen mutations. 9195222

1997
dbSNP: rs1422638161
rs1422638161
COL4A3 ; MFF-DT
A 0.700 GeneticVariation CLINVAR Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. 11134255

2001
dbSNP: rs1440033157
rs1440033157
COL4A3 ; MFF-DT
AC 0.700 CausalMutation CLINVAR