RS121912880 COL2A1

Health Risk Chr 12:47986352 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Stickler syndrome type 1
Spondyloepimetaphyseal dysplasia
Strudwick type
Inborn genetic diseases
Spondyloperipheral dysplasia
15 conditions
Stickler syndrome type 1
Spondyloepimetaphyseal dysplasia
Strudwick type
Inborn genetic diseases
Spondyloperipheral dysplasia
15 conditions
Population Frequencies
gnomAD ALL
100%
Other Variants in COL2A1
rs1555164872 rs121912864 rs121912865 rs121912866 rs121912867 rs2136528572 rs121912868 rs121912869 rs121912870 rs2136609285
Ask Dr. Hemsworth about this variant