COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912825
rs121912825
Entrez Id: 1285;654841
Gene Symbol: COL4A3;MFF-DT
COL4A3;MFF-DT
CUI: C4746745
Disease:
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs121912825
rs121912825
Entrez Id: 1285;654841
Gene Symbol: COL4A3;MFF-DT
COL4A3;MFF-DT
CUI: C4746745
Disease:
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		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
Entrez Id: 1285;654841
Gene Symbol: COL4A3;MFF-DT
COL4A3;MFF-DT
CUI: C4746745
Disease:
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR