RS11479 TYMP

Health Risk Chr 22:50525806 snv stop gained

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What This Variant Does

"CLNSIG=255

Associated Conditions

Mitochondrial DNA depletion syndrome 1

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
Mean corpuscular volume	A	β: 0.055	2E-11	PubMed
Mean corpuscular volume	A	β: 0.01	1E-7	PubMed

Population Frequencies

gnomAD ALL

10.1%

1kG AFR

3.2%

1kG ALL

85.7%

1kG AMR

17%

1kG EAS

29.4%

1kG EUR

7.2%

1kG SAS

19.1%

Other Variants in TYMP