Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514745
rs397514745
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.800 GeneticVariation UNIPROT Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 28887846 2017
dbSNP: rs397514745
rs397514745
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.800 GeneticVariation UNIPROT Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514745
rs397514745
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
G 0.800 CausalMutation CLINVAR Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514746
rs397514746
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.800 GeneticVariation UNIPROT Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514746
rs397514746
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
T 0.800 CausalMutation CLINVAR Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514746
rs397514746
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
0.800 GeneticVariation UNIPROT Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 28887846 2017
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89
A 0.700 GeneticVariation CLINVAR