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rs2285644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 Diego blood group Di(a-b+); found in > 99% of Caucasians and Blacks
(C;T) 1 Diego blood group Di(a+b+); ancestors likely to include some East Asians/Mongolians and/or indigenous North/South Americans
(G;G) 0
(T;T) 1 Diego blood group Di(a+b-); ancestors very likely to include some East Asians/Mongolians and/or indigenous North/South Americans
ReferenceGRCh38 38.1/142
Chromosome17
Position44251253
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs2285644
dbSNP (old)rs2285644
ClinGenrs2285644
ebirs2285644
HLIrs2285644
Exacrs2285644
Varsomers2285644
Maprs2285644
PheGenIrs2285644
Biobankrs2285644
1000 genomesrs2285644
hgdprs2285644
ensemblrs2285644
gopubmedrs2285644
geneviewrs2285644
scholarrs2285644
googlers2285644
pharmgkbrs2285644
gwascentralrs2285644
openSNPrs2285644
23andMers2285644
23andMe allrs2285644
SNP Nexus

SNPshotrs2285644
SNPdbers2285644
MSV3drs2285644
GWAS Ctlgrs2285644
GMAF0.01423
Max Magnitude1

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.[PMID 8206915]

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+).

? (C;C) (C;T) (T;T) 28
OMIM109270
DescDIEGO BLOOD GROUP ANTIGEN
Variant0017
Relatedalso
Neighborrs28931585
Distance47


ClinVar
Risk rs2285644(A;A) Rs2285644(T;T)
Alt rs2285644(A;A) Rs2285644(T;T)
Reference Rs2285644(C;C)
Significance Pathogenic
Disease DIEGO BLOOD GROUP ANTIGEN not specified Hemolytic anemia
Variation info
Gene SLC4A1
CLNDBN DIEGO BLOOD GROUP ANTIGEN not specified Hemolytic anemia
Reversed 1
HGVS NC_000017.10:g.42328621G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019345.28, RCV000248753.1, RCV000388319.1,



[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


GET Evidence
SLC4A1-P854L
aa_change Pro854Leu
aa_change_short P854L
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.000836586
summary



Non-ABO Blood Groups