RS10485741 JAG1

Health Risk Chr 20:10656408 snv synonymous variant
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Associated Conditions
Tetralogy of Fallot
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Cardiovascular phenotype
Alagille syndrome due to a JAG1 point mutation
Population Frequencies
gnomAD ALL
92.7%
1kG AFR
4.6%
1kG ALL
5.9%
1kG AMR
12.1%
1kG EAS
2%
1kG EUR
8.3%
1kG SAS
4.7%
Other Variants in JAG1
rs1568792286 rs1568791920 rs876660978 rs1568795820 rs121918350 rs121918351 rs886039393 rs28939668 rs121918352 rs121918353
Ask Dr. Hemsworth about this variant