RS121434529 NAGA

Health Risk Chr 22:42061051 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 2
See cases
Inborn genetic diseases
NAGA-related disorder
Intellectual disability
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 2
See cases
Inborn genetic diseases
NAGA-related disorder
Intellectual disability
GWAS Studies (1)
Trait Risk Allele OR / Beta P-value Study
NAGA protein levels T OR: 1.12 3E-158 PubMed
Population Frequencies
gnomAD ALL
99.6%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
99.9%
Other Variants in NAGA
rs121434530 rs121434531 rs121434532 rs121434533 rs779423223 rs186173534 rs147853281 rs374984089 rs73167107 rs140673721
Ask Dr. Hemsworth about this variant