Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912879
rs121912879
COL2A1 ; LOC105369752
0.925 0.080 12 47980017 missense variant C/G snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.800 1.000 0 1989 2007