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: rs121912864
rs121912864
COL2A1
1.000 0.080 12 47977373 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.700 0
dbSNP: rs121912867
rs121912867
COL2A1 ; LOC105369752
0.925 0.080 12 47982142 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.700 0
dbSNP: rs121912868
rs121912868
COL2A1
1.000 0.080 12 47977607 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.700 0