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rs33931314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33931314(C;T)
Make rs33931314(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177120
GeneHBA1
is asnp
is mentioned by
dbSNPrs33931314
ebirs33931314
HLIrs33931314
Exacrs33931314
Varsomers33931314
Maprs33931314
PheGenIrs33931314
hapmaprs33931314
1000 genomesrs33931314
hgdprs33931314
ensemblrs33931314
gopubmedrs33931314
geneviewrs33931314
scholarrs33931314
googlers33931314
pharmgkbrs33931314
gwascentralrs33931314
openSNPrs33931314
23andMers33931314
23andMe allrs33931314
SNP Nexus

SNPshotrs33931314
SNPdbers33931314
MSV3drs33931314
GWAS Ctlgrs33931314
Max Magnitude0
OMIM141800
Desc
Variant0038
Relatedalso
OMIM141800
Desc
Variant0138
Relatedalso
ClinVar
Risk rs33931314(A,G,T;A,G,T)
Alt rs33931314(A,G,T;A,G,T)
Reference rs33931314(C;C)
Significance Other
Disease HEMOGLOBIN ST. LUKE'S HEMOGLOBIN G (GEORGIA)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN ST. LUKE'S HEMOGLOBIN G (GEORGIA)
Reversed 0
HGVS NC_000016.9:g.227119C>G; NC_000016.9:g.227119C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017159.2, RCV000017025.2,


[PMID 4854984] The oxygen affinity of haemoglobin St. Luke's.


[PMID 5081617] Hemoglobin St Luke's, or alpha 2 , 95 Arg (G2) beta 2 .


[PMID 6629829] Hb St. Luke's [alpha 95 (G2) Pro replaced by Arg] in Japan.


[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.


[PMID 12403494] Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].