SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 171; N. variants: 7
Disease: Holoprosencephaly ×
Source: BEFREE ×
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: rs587778792
rs587778792 		0.925 0.120 7 155811823 missense variant C/G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2005 2005
dbSNP: rs587778799
rs587778799 		0.925 0.120 7 155806296 missense variant C/G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2005 2005