GOT1, glutamic-oxaloacetic transaminase 1, 2805

N. diseases: 71; N. variants: 4
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: rs76850691
rs76850691 		10 99397681 stop gained G/A;C snv 4.0E-06; 5.2E-03
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 2 2013 2019
dbSNP: rs11813054
rs11813054 		0.925 0.040 10 99420879 intron variant C/T snv 2.3E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs11813054
rs11813054 		0.925 0.040 10 99420879 intron variant C/T snv 2.3E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11819158
rs11819158 		10 99418299 intron variant G/T snv 2.3E-02
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2642
rs2642 		1.000 0.080 10 99396992 3 prime UTR variant T/C snv 5.0E-02
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2013 2013