Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912880
rs121912880
COL2A1
4 0.882 0.080 12 47986353 missense variant C/A;T snv 0.800 1.000 2 1995 2005