COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Amelogenesis Imperfecta ×
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: rs747301994
rs747301994 		1.000 0.080 10 104053097 stop gained G/A;T snv 8.0E-06
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2016 2016