SIX2, SIX homeobox 2, 10736

N. diseases: 79; N. variants: 1
Disease: Cleft Palate ×
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: rs146753226
rs146753226 		0.882 0.200 2 45006255 missense variant C/T snv 1.1E-04 4.0E-04
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2020 2020