KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1567498374
rs1567498374
0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs201650281
rs201650281
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018