PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Muscle hypotonia ×
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: rs62514895
rs62514895 		1.000 0.120 12 102917066 splice region variant C/A;T snv 7.2E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1993 2015