Disease: Penttinen-Aula syndrome ×
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: rs1554108211
rs1554108211 		0.882 0.160 5 150124279 missense variant A/G snv
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 1 2015 2015