RS116980451 COL12A1

Health Risk Chr 6:75188436 snv missense variant
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Associated Conditions
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Malignant tumor of esophagus
Ullrich congenital muscular dystrophy 2
Bethlem myopathy 2
Malignant tumor of esophagus
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%
Other Variants in COL12A1
rs875989819 rs796052093 rs796052094 rs200487396 rs41266761 rs200408101 rs180718181 rs372985511 rs369360559 rs1064795770
Ask Dr. Hemsworth about this variant