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rs41464951

From SNPedia

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Geno Mag Summary
(C;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in complete genomics


Make rs41464951(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173598
GeneHBA2
is asnp
is mentioned by
dbSNPrs41464951
ebirs41464951
HLIrs41464951
Exacrs41464951
Varsomers41464951
Maprs41464951
PheGenIrs41464951
hapmaprs41464951
1000 genomesrs41464951
hgdprs41464951
ensemblrs41464951
gopubmedrs41464951
geneviewrs41464951
scholarrs41464951
googlers41464951
pharmgkbrs41464951
gwascentralrs41464951
openSNPrs41464951
23andMers41464951
23andMe allrs41464951
SNP Nexus

SNPshotrs41464951
SNPdbers41464951
MSV3drs41464951
GWAS Ctlgrs41464951
Max Magnitude3
OMIM141850
Desc
Variant0001
Relatedalso
OMIM141850
Desc
Variant0002
Relatedalso
OMIM141850
Desc
Variant0028
Relatedalso
ClinVar
Risk rs41464951(A,C,G;A,C,G)
Alt rs41464951(A,C,G;A,C,G)
Reference rs41464951(T;T)
Significance Other
Disease HEMOGLOBIN ICARIA Hemoglobin H disease Hemoglobin constant spring alpha Thalassemia HEMOGLOBIN SEAL ROCK
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN ICARIA Hemoglobin H disease, nondeletional Hemoglobin constant spring alpha Thalassemia HEMOGLOBIN SEAL ROCK
Reversed 0
HGVS NC_000016.9:g.223597T>A; NC_000016.9:g.223597T>C; NC_000016.9:g.223597T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016893.1, RCV000022603.4, RCV000016891.1, RCV000022602.4, RCV000169546.1, RCV000016939.1,


[PMID 1746536] Hemoglobin constant spring in Bangkok: molecular screening by selective enzymatic amplification of the alpha 2-globin gene.


[PMID 4413624] Haemoglobin Constant Spring synthesis in red cell precursors.


[PMID 4716657OA-icon.png] Hemoglobin Constant Spring (slow-moving hemoglobin X components) and hemoglobin e in Malayan aborigines.


[PMID 4810076] Homozygous state for Hb Constant Spring (slow-moving Hb X components).


[PMID 4944483] Haemoglobin Constant Spring--a chain termination mutant?


[PMID 5097570OA-icon.png] An unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease.


[PMID 7502632] Identification of several alpha-globin gene variations in a small Laotian family.


[PMID 7910814] Rapid PCR detection of the Hb constant spring mutation using an artificial-restriction fragment length polymorphism.


[PMID 11146568] Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].


[PMID 2372512] Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA.


[PMID 4422784] Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia.


[PMID 8213764] Characterization of nondeletion alpha-thalassemia mutations in the Greek population.


[PMID 8602995] The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H.


[PMID 9255612] Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb).