STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Disease: Cleft palate, isolated ×
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: rs1057519583
rs1057519583 		0.882 0.160 10 103900115 missense variant C/G snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019