COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Dentinogenesis 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: rs66883877
rs66883877 		0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016