POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
Disease: Dwarfism ×
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: rs397514487
rs397514487 		0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0