COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: rs121912911
rs121912911
0.925 0.200 7 94426442 missense variant G/C snv
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 1996 1996