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rs33983276

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33983276(C;G)
Make rs33983276(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225668
GeneHBB
is asnp
is mentioned by
dbSNPrs33983276
ebirs33983276
HLIrs33983276
Exacrs33983276
Varsomers33983276
Maprs33983276
PheGenIrs33983276
hapmaprs33983276
1000 genomesrs33983276
hgdprs33983276
ensemblrs33983276
gopubmedrs33983276
geneviewrs33983276
scholarrs33983276
googlers33983276
pharmgkbrs33983276
gwascentralrs33983276
openSNPrs33983276
23andMers33983276
23andMe allrs33983276
SNP Nexus

SNPshotrs33983276
SNPdbers33983276
MSV3drs33983276
GWAS Ctlgrs33983276
Max Magnitude0
OMIM141900
Desc
Variant0148
Relatedalso
OMIM141900
Desc
Variant0289
Relatedalso
OMIM141900
Desc
Variant0481
Relatedalso
ClinVar
Risk rs33983276(A,G,T;A,G,T)
Alt rs33983276(A,G,T;A,G,T)
Reference rs33983276(C;C)
Significance Other
Disease HEMOGLOBIN TENDE HEMOGLOBIN KHARTOUM HEMOGLOBIN TY GARD
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TENDE HEMOGLOBIN KHARTOUM HEMOGLOBIN TY GARD
Reversed 1
HGVS NC_000011.9:g.5246898G>A; NC_000011.9:g.5246898G>C; NC_000011.9:g.5246898G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016836.2, RCV000016438.2, RCV000016632.2,


[PMID 639985] Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact.


[PMID 9859935] Hb Tende [beta124(H2)Pro-->Leu]: a new variant with a moderate increase in oxygen affinity.