CLRN1, clarin 1, 7401

N. diseases: 77; N. variants: 26
Disease: Usher Syndrome, Type III ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908140
rs121908140
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.700 CausalMutation CLINVAR Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane. 19753315 2009
dbSNP: rs121908140
rs121908140
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.700 CausalMutation CLINVAR Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001