RAI1, retinoic acid induced 1, 10743

N. diseases: 205; N. variants: 22
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: rs1135401792
rs1135401792 		1.000 0.080 17 17795909 frameshift variant AAGA/- delins
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0