KYNU, kynureninase, 8942

N. diseases: 88; N. variants: 8
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: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 1.000 1 2017 2017
dbSNP: rs78201785
rs78201785 		2 142917663 intron variant A/C snv 5.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1135401744
rs1135401744 		0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.700 0
dbSNP: rs758865880
rs758865880 		0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.700 0
dbSNP: rs770642379
rs770642379 		0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.700 0
dbSNP: rs606231307
rs606231307 		2 142960633 missense variant A/G snv 1.6E-05
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2007 2017