rs121912943, COL11A1

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.
STICKLER SYNDROME, TYPE II (disorder)
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
9 1.000 0.080 1 103004633 missense variant C/A snv 0.800 1.000 3 1996 2010