KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607194
rs267607194
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3150897
Disease:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.800 GeneticVariation UNIPROT Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. 20920668 2010
dbSNP: rs267607194
rs267607194
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3150897
Disease:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		T 0.800 CausalMutation CLINVAR