rs758865880, KYNU

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Defect of vertebral segmentation
CUI: C0432163
Disease: Defect of vertebral segmentation
6 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
Hypoplastic Left Heart Syndrome
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
7 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
Unilateral agenesis of kidney
CUI: C0266294
Disease: Unilateral agenesis of kidney
7 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
3 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 0