MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11
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: rs140467171
rs140467171 		1.000 12 57500337 missense variant T/C snv 3.2E-05 7.0E-06
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.800 1.000 2 2013 2015
dbSNP: rs756021768
rs756021768 		0.925 0.040 12 57512811 missense variant A/G;T snv 4.0E-06
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.800 1.000 2 2013 2015
dbSNP: rs766466297
rs766466297 		1.000 12 57498563 missense variant A/G snv 8.0E-06
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.800 1.000 2 2013 2015
dbSNP: rs781249411
rs781249411 		0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.800 1.000 2 2013 2014
dbSNP: rs201555303
rs201555303 		1.000 12 57512036 missense variant T/C snv 6.8E-05 2.8E-05
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.800 0
dbSNP: rs143592405
rs143592405 		1.000 12 57512300 stop gained C/A;T snv 1.6E-05
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.700 1.000 2 2013 2015
dbSNP: rs587777718
rs587777718 		1.000 12 57512849 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.700 1.000 2 2013 2014
dbSNP: rs141340466
rs141340466 		1.000 12 57500406 missense variant G/A snv 1.9E-04 1.0E-04
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.700 0
dbSNP: rs756021768
rs756021768 		0.925 0.040 12 57512811 missense variant A/G;T snv 4.0E-06
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs758523839
rs758523839 		1.000 12 57498452 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.700 0
dbSNP: rs781249411
rs781249411 		0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs11544238
rs11544238 		1.000 0.040 12 57476372 missense variant A/C;G snv 0.50; 8.0E-06
CUI: C0010073
Disease: Coronary Artery Vasospasm
Coronary Artery Vasospasm 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs779695088
rs779695088 		1.000 0.040 12 57517091 synonymous variant G/A snv 1.2E-05
CUI: C0206634
Disease: Liposarcoma, Myxoid
Liposarcoma, Myxoid 		Neoplasms 0.010 1.000 1 2016 2016