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rs33964507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33964507(A;T)
Make rs33964507(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176799
GeneHBA1
is asnp
is mentioned by
dbSNPrs33964507
ebirs33964507
HLIrs33964507
Exacrs33964507
Varsomers33964507
Maprs33964507
PheGenIrs33964507
hapmaprs33964507
1000 genomesrs33964507
hgdprs33964507
ensemblrs33964507
gopubmedrs33964507
geneviewrs33964507
scholarrs33964507
googlers33964507
pharmgkbrs33964507
gwascentralrs33964507
openSNPrs33964507
23andMers33964507
23andMe allrs33964507
SNP Nexus

SNPshotrs33964507
SNPdbers33964507
MSV3drs33964507
GWAS Ctlgrs33964507
Max Magnitude0
OMIM141800
Desc
Variant0037
Relatedalso
OMIM141850
Desc
Variant0009
Relatedalso
ClinVar
Risk rs33964507(C,G,T;C,G,T)
Alt rs33964507(C,G,T;C,G,T)
Reference rs33964507(A;A)
Significance Other
Disease HEMOGLOBIN G (FORT WORTH) HEMOGLOBIN FORT WORTH
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN G (FORT WORTH) HEMOGLOBIN FORT WORTH
Reversed 0
HGVS NC_000016.9:g.226798A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017023.2, RCV000017024.2,


[PMID 3839776] Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada.


[PMID 5122655] Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration.


[PMID 1268216] Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8).


[PMID 2752146] Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val).


[PMID 9658939] [Abnormal hemoglobins and thalassemias in Mexico].


[PMID 12144063] Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion.


[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.