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rs33939620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 3 Alpha-thalassemia allele carrier
Make rs33939620(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176786
GeneHBA1
is asnp
is mentioned by
dbSNPrs33939620
ebirs33939620
HLIrs33939620
Exacrs33939620
Varsomers33939620
Maprs33939620
PheGenIrs33939620
hapmaprs33939620
1000 genomesrs33939620
hgdprs33939620
ensemblrs33939620
gopubmedrs33939620
geneviewrs33939620
scholarrs33939620
googlers33939620
pharmgkbrs33939620
gwascentralrs33939620
openSNPrs33939620
23andMers33939620
23andMe allrs33939620
SNP Nexus

SNPshotrs33939620
SNPdbers33939620
MSV3drs33939620
GWAS Ctlgrs33939620
Max Magnitude3
OMIM141800
Desc
Variant0016
Relatedalso
OMIM141800
Desc
Variant0096
Relatedalso
OMIM141850
Desc
Variant0063
Relatedalso
ClinVar
Risk rs33939620(A,C,T;A,C,T)
Alt rs33939620(A,C,T;A,C,T)
Reference rs33939620(G;G)
Significance Other
Disease HEMOGLOBIN CHAD HEMOGLOBIN MEMPHIS
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN CHAD HEMOGLOBIN MEMPHIS
Reversed 0
HGVS NC_000016.9:g.226785G>A; NC_000016.9:g.226785G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017003.2, RCV000017108.2,


[PMID 4743350] A third case of hemoglobin Memphis-sickle cell disease. Whole blood viscosity used as a screening test.


[PMID 5972350] Characterization of alpha23GluNH2 in hemoglobin Memphis. Hemoglobin Memphis/S, a new variant of molecular disease.


[PMID 2606723] Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S.


[PMID 4786652] Haemoglobin Chad, alpha23 GLU leads to LYS, in a Chinese family in Taiwan.


[PMID 5714528OA-icon.png] A survey of hemoglobins in the Republic of Chad and characterization of hemoglobin Chad:alpha-2-23Glu--Lys-beta-2.


[PMID 15481894] A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family.