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: rs672601354
rs672601354
COL2A1
1.000 0.160 12 47976889 frameshift variant -/AG ins
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.700 0
dbSNP: rs672601355
rs672601355
COL2A1
1.000 0.160 12 47987632 inframe insertion -/ACCCAGGAG delins 8.1E-06
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		0.700 0