Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912952
rs121912952
COL11A2
0.800 GeneticVariation UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957

2015
dbSNP: rs864309523
rs864309523
COL11A2
0.800 GeneticVariation UNIPROT Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. 25633957

2015
dbSNP: rs121912952
rs121912952
COL11A2
0.800 GeneticVariation UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917

2005
dbSNP: rs864309523
rs864309523
COL11A2
0.800 GeneticVariation UNIPROT Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917

2005
dbSNP: rs121912952
rs121912952
COL11A2
T 0.800 CausalMutation CLINVAR

dbSNP: rs606231410
rs606231410
COL11A2
0.800 GeneticVariation UNIPROT

dbSNP: rs606231410
rs606231410
COL11A2
A 0.800 CausalMutation CLINVAR

dbSNP: rs864309523
rs864309523
COL11A2
T 0.800 CausalMutation CLINVAR

dbSNP: rs1562336726
rs1562336726
COL11A2
C 0.700 GeneticVariation CLINVAR