SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
Disease: Smith-Magenis 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: rs1569351529
rs1569351529 		1.000 0.080 X 21978035 missense variant T/G snv
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0