SHROOM4, shroom family member 4, 57477

N. diseases: 42; N. variants: 4
Disease: Stocco dos Santos 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: rs121434620
rs121434620 		1.000 0.080 X 50607876 missense variant G/A snv 5.6E-06
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs189694750
rs189694750 		1.000 0.080 X 50635637 missense variant G/A snv 6.8E-04 2.4E-04
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0