PUDP, pseudouridine 5'-phosphatase, 8226

N. diseases: 12; N. variants: 2
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: rs4830580
rs4830580 		0.925 0.040 X 7067653 intron variant C/A snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4830580
rs4830580 		0.925 0.040 X 7067653 intron variant C/A snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs5935876
rs5935876 		X 7004037 intron variant G/A snv 0.34
CUI: C0201983
Disease: Dehydroepiandrosterone sulfate measurement (procedure)
Dehydroepiandrosterone sulfate measurement (procedure) 		0.700 1.000 1 2019 2019