rs121912931, COL9A1

N. diseases: 3
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 IV
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
2 0.882 0.280 6 70281033 stop gained G/A snv 0.700 0
Stickler syndrome (disorder)
CUI: C0265253
Disease: Stickler syndrome (disorder)
8 0.882 0.280 6 70281033 stop gained G/A snv 0.010 1.000 1 2006 2006
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
27 0.882 0.280 6 70281033 stop gained G/A snv 0.010 1.000 1 2006 2006