RS121434346 SLC6A19

Health Risk Chr 5:1212337 snv missense variant

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What This Variant Does

"[OMIM:?]

Associated Conditions

Neutral 1 amino acid transport defect

Iminoglycinuria

Hyperglycinuria

SLC6A19-related disorder

Neutral 1 amino acid transport defect

Iminoglycinuria

Hyperglycinuria

SLC6A19-related disorder

GWAS Studies (11)

Trait	Risk Allele	OR / Beta	P-value	Study
Methionine sulfone levels	A	OR: 1.86	1E-140	PubMed
3-methoxytyrosine levels	A	OR: 0.95	3E-38	PubMed
N-delta-acetylornithine levels	A	OR: 0.9	2E-35	PubMed
Creatinine levels	A	OR: 0.18	2E-31	PubMed
Creatinine levels	—	OR: 0.17	6E-30	PubMed
Creatinine levels (UKB data field 30700)	A	OR: 0.12	2E-23	PubMed
Estimated glomerular filtration rate	A	OR: 0.17	6E-21	PubMed
Creatinine levels	A	OR: 0.17	1E-20	PubMed
Serum creatinine levels	A	OR: 0.13	1E-19	PubMed
N-delta-acetylornithine levels	A	OR: 0.91	1E-15	PubMed
Cystatin C levels	A	OR: 0.12	6E-11	PubMed

Population Frequencies

gnomAD ALL

99.7%

1kG AFR

99.9%

1kG ALL

99.9%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.4%

1kG SAS

0.1%

Other Variants in SLC6A19