RS139446305 COL1A2

Health Risk Chr 7:94411098 snv missense variant
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What This Variant Does
"CLNSIG=4
Associated Conditions
Ehlers-Danlos syndrome
arthrochalasia type
2
Osteogenesis imperfecta type I
cardiac valvular type
classic type
1
Cardiovascular phenotype
Ehlers-Danlos syndrome
arthrochalasia type
2
Osteogenesis imperfecta type I
cardiac valvular type
classic type
1
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in COL1A2
rs72656357 rs72659319 rs72659345 rs74315146 rs121912900 rs121912901 rs121912902 rs121912903 rs121912904 rs121912905
Ask Dr. Hemsworth about this variant