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: rs200487215
rs200487215 		0.882 0.080 16 75647605 missense variant T/A;C snv 1.6E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201650281
rs201650281 		0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs3784929
rs3784929 		0.925 0.160 16 75643129 intron variant A/G snv 0.30
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs3784929
rs3784929 		0.925 0.160 16 75643129 intron variant A/G snv 0.30
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs748723559
rs748723559 		1.000 0.040 16 75630480 missense variant C/T snv 4.0E-06
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8053257
rs8053257 		0.925 0.120 16 75640790 intron variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs8053257
rs8053257 		0.925 0.120 16 75640790 intron variant G/A snv 0.18
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 < 0.001 1 2016 2016