rs121912895, COL2A1

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Strudwick syndrome
CUI: C0700635
Disease: Strudwick syndrome
19 1.000 0.080 12 47978320 missense variant T/C snv 0.800 1.000 2 1995 2005