RS143043662 JUP

Health Risk Chr 17:41757518 snv missense variant

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Associated Conditions

Cardiovascular phenotype

Cardiomyopathy

Hypertrophic cardiomyopathy

Arrhythmogenic right ventricular dysplasia 12

Naxos disease

Cardiovascular phenotype

Cardiomyopathy

Hypertrophic cardiomyopathy

Arrhythmogenic right ventricular dysplasia 12

Naxos disease

GWAS Studies (4)

Trait	Risk Allele	OR / Beta	P-value	Study
Heel bone mineral density	—	β: 0.078	2E-16	PubMed
Heel bone mineral density	—	—	4E-16	PubMed
Heel bone mineral density	C	β: 0.069	3E-15	PubMed
Heel bone mineral density	C	β: 0.087	5E-6	PubMed

Population Frequencies

gnomAD ALL

98.9%

1kG AFR

99.8%

1kG ALL

99.7%

1kG AMR

99.7%

1kG EAS

100%

1kG EUR

99.3%

1kG SAS

99.8%

Other Variants in JUP