rs1135401744, KYNU

N. diseases: 14
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.
11 pairs of ribs
CUI: C1839731
Disease: 11 pairs of ribs
3 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Anteriorly placed anus
CUI: C1838705
Disease: Anteriorly placed anus
5 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Congenital hypoplasia of kidney
CUI: C0266295
Disease: Congenital hypoplasia of kidney
8 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Defect of vertebral segmentation
CUI: C0432163
Disease: Defect of vertebral segmentation
6 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Mild microcephaly
CUI: C1836806
Disease: Mild microcephaly
5 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Short long bone
CUI: C1854912
Disease: Short long bone
19 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Short neck
CUI: C0521525
Disease: Short neck
29 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Thoracic hemivertebra
CUI: C0432152
Disease: Thoracic hemivertebra
1 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
16 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 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 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 0