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: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.700 0