RS138055271 SPTA1

Health Risk Chr 1:158619314 snv missense variant
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Associated Conditions
Hereditary spherocytosis type 3
Pyropoikilocytosis
hereditary
Elliptocytosis 2
Hereditary spherocytosis type 3
Pyropoikilocytosis
hereditary
Elliptocytosis 2
GWAS Studies (2)
Trait Risk Allele OR / Beta P-value Study
Red blood cell side fluorescence distribution width C OR: 0.22 5E-10 PubMed
Blood cell traits latent factor 13 (red cell) — — 2E-9 PubMed
Population Frequencies
gnomAD ALL
98.9%
1kG AFR
100%
1kG ALL
99.5%
1kG AMR
1%
1kG EAS
100%
1kG EUR
1.7%
1kG SAS
99.8%
Other Variants in SPTA1
rs121918634 rs757679761 rs121918636 rs121918637 rs121918638 rs121918640 rs121918641 rs121918642 rs121918643 rs7418956
Ask Dr. Hemsworth about this variant