Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755649235
rs755649235
COL4A4
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR Improving mutation screening in familial hematuric nephropathies through next generation sequencing. 24854265

2014