rs2285644

A SNP in the SLC4A1 gene on chromosome 17. Its most notable genotype is G;G: Diego blood group Di(a-b+); found in > 99% of Caucasians and Blacks

Gene
SLC4A1
Location
Chr 1744,251,253 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableGoodDiego blood group Di(a-b+); found in > 99% of Caucasians and BlacksMinor · 1.095% of people
  2. A;GGoodDiego blood group Di(a+b+); ancestors likely to include some East Asians/Mongolians and/or indigenous North/South AmericansMinor · 1.05% of people
  3. C;CNot ratedNo summary available.Typical · 0.00% of people
  4. A;AGoodDiego blood group Di(a+b-); ancestors very likely to include some East Asians/Mongolians and/or indigenous North/South AmericansMinor · 1.00% of people

SNPedia records rs2285644 on the minus strand: (C;C), (C;T), (G;G), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 8 HapMap populations.

  • AverageG;G 95% A;G 5% C;C 0% A;A 0%
  • European ancestry (Utah)G;G 100% A;G 0% C;C 0% A;A 0%
  • Han Chinese (Beijing)G;G 92% A;G 8% C;C 0% A;A 0%
  • Japanese (Tokyo)G;G 86% A;G 14% C;C 0% A;A 0%
  • Yoruba (Nigeria)G;G 100% A;G 0% C;C 0% A;A 0%
  • African ancestry (Southwest US)G;G 98% A;G 2% C;C 0% A;A 0%
  • Luhya (Kenya)G;G 99% A;G 1% C;C 0% A;A 0%
  • Mexican ancestry (Los Angeles)G;G 85% A;G 16% C;C 0% A;A 0%
  • Maasai (Kenya)G;G 99% A;G 1% C;C 0% A;A 0%

Other SLC4A1 SNPs

All SLC4A1 SNPs

Notes

From SNPedia

Show notes, about 230 words

The Di(a)/Di(b) polymorphism of the Diego blood group antigen is due to a single amino acid substitution at position 854 of the band-3 protein, encoded by the SLC4A1 gene. Di(b) is common or ubiquitous to at least some extent in all populations which have been screened for it, while Di(a) has been found only in indigenous peoples of the Americas (in both North and South America) and East Asians, and in people with some ancestors from those groups.Wikipedia The rs2285644(C) allele encodes a proline at this position, which corresponds to Di(b). The rs2285644(C;C) genotype results in the Diego phenotype Di(a-b+), found in over 99.9% of Caucasians and Blacks, and over 90% of Asians. The rs2285644(T) allele encodes a leucine at this position, which corresponds to Di(a). As stated above, this is found primarily only those with East Asian (Di(a+b+) is found in 10% of Asians overall) or indigenous American (North or South) ancestors. Dia antigen is more commonly found in Oriental people of Mongolian descent, being more common in the Japanese (12%) and the Chinese (5%). In South American Indians, up to 54% of the population carries the Dia antigen. Therefore, the most common phenotype in most such populations is Di(a+b+). Non-ABO Blood Groups

G;G

see discussion of Diego blood group at rs2285644

A;G

see discussion of Diego blood group at rs2285644

A;A

see discussion of Diego blood group at rs2285644

Source and license

Adapted from rs2285644 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.