Disease: Gorlin Chaudhry Moss 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: rs1553253989
rs1553253989 		1.000 0.160 1 108157481 missense variant C/T snv
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1553253990
rs1553253990 		1.000 0.160 1 108157482 missense variant G/A snv
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017