PRR12, proline rich 12, 57479

N. diseases: 35; N. variants: 7
Disease: Generalized 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: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0