Disease: SOTOS SYNDROME 1 ×
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: rs1562295135
rs1562295135 		1.000 0.040 5 177282569 frameshift variant -/T ins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0