rs41464951

A SNP in the HBA2 gene on chromosome 16. Its most notable genotype is A;T: Alpha-thalassemia allele carrier

Gene
HBA2
Location
Chr 16173,598 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;TMost notableBadAlpha-thalassemia allele carrierImportant · 3.0
  2. C;TBadAlpha-thalassemia allele carrierImportant · 3.0
  3. G;TBadAlpha-thalassemia allele carrierImportant · 3.0
  4. T;TGoodcommon in complete genomicsTypical · 0.0

On SNPedia: (A;T), (C;T), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other HBA2 SNPs

All HBA2 SNPs

Notes

From SNPedia

Notes

The reference allele is (T) for rs41464951, a SNP in the HBA2 gene on chromosome 16, and all three missense alternatives are known, leading to c.427T>A, c.427T>Cand c.427T>G, with three similar consequences: * c.427T>A (p.Ter143Lys) is known as Hemoglobin Icaria and can lead to the subtype of alpha thalassemia known as Hemoglobin H disease * c.427T>C (p.Ter143Gln) is known as Hemoglobin Constant Spring and may also lead to Hemoglobin H disease * c.427T>G (p.Ter143Glu) is known as Hemoglobin Seal Rock and may also lead to Hemoglobin H disease

A;T

See discussion at HBA2 and Alpha Thalassemia.

C;T

See discussion at HBA2 and Alpha Thalassemia.

G;T

See discussion at HBA2 and Alpha Thalassemia.

Source and license

Adapted from rs41464951 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.