RS121908258 CHST14

Health Risk Chr 15:40472090 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Ehlers-Danlos syndrome
musculocontractural type
musculocontractural type 1
Cardiovascular phenotype
Ehlers-Danlos syndrome
musculocontractural type
musculocontractural type 1
Cardiovascular phenotype
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.1%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in CHST14
rs397518432 rs121908257 rs267606729 rs267606730 rs267606731 rs1555410785 rs397514706 rs794726956 rs139229738 rs556002453
Ask Dr. Hemsworth about this variant