rs1185695012, WHRN

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Usher Syndrome, Type II
CUI: C1568249
Disease: Usher Syndrome, Type II
0.010 GeneticVariation BEFREE Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II. 24194196 2014
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.010 GeneticVariation BEFREE Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II. 24194196 2014