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: rs397514745
rs397514745 		1.000 16 75636503 missense variant A/G snv 2.8E-05
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 1.000 2 2013 2017
dbSNP: rs397514746
rs397514746 		1.000 16 75631726 missense variant C/T snv 1.4E-05
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 1.000 2 2013 2017
dbSNP: rs267607194
rs267607194 		1.000 16 75640258 missense variant A/T snv
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.800 1.000 1 2010 2010
dbSNP: rs146955132
rs146955132 		1.000 16 75634266 missense variant G/C snv 3.6E-04 2.2E-04
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.700 0
dbSNP: rs587776688
rs587776688 		1.000 16 75636504 frameshift variant -/AA delins
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.700 0
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: rs200487215
rs200487215 		0.882 0.080 16 75647605 missense variant T/A;C snv 1.6E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200487215
rs200487215 		0.882 0.080 16 75647605 missense variant T/A;C snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs200487215
rs200487215 		0.882 0.080 16 75647605 missense variant T/A;C snv 1.6E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
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: rs1349826807
rs1349826807 		1.000 0.120 16 75648280 missense variant G/A snv 7.9E-05 4.2E-05
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic 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: 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
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: 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: rs1567498374
rs1567498374 		0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1567498374
rs1567498374 		0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs1567498374
rs1567498374 		0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567498374
rs1567498374 		0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic 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: 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: rs201650281
rs201650281 		0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.700 0
dbSNP: rs201650281
rs201650281 		0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		Pathological Conditions, Signs and Symptoms; Nervous System 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: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		Pathological Conditions, Signs and Symptoms 0.700 0