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rs33990858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33990858(A;A)
Make rs33990858(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226654
GeneHBB
is asnp
is mentioned by
dbSNPrs33990858
ebirs33990858
HLIrs33990858
Exacrs33990858
Varsomers33990858
Maprs33990858
PheGenIrs33990858
hapmaprs33990858
1000 genomesrs33990858
hgdprs33990858
ensemblrs33990858
gopubmedrs33990858
geneviewrs33990858
scholarrs33990858
googlers33990858
pharmgkbrs33990858
gwascentralrs33990858
openSNPrs33990858
23andMers33990858
23andMe allrs33990858
SNP Nexus

SNPshotrs33990858
SNPdbers33990858
MSV3drs33990858
GWAS Ctlgrs33990858
Max Magnitude0
OMIM141900
Desc
Variant0079
Relatedalso
OMIM141900
Desc
Variant0281
Relatedalso
OMIM141900
Desc
Variant0433
Relatedalso
OMIM141900
Desc
Variant0453
Relatedalso
ClinVar
Risk rs33990858(A,C,T;A,C,T)
Alt rs33990858(A,C,T;A,C,T)
Reference rs33990858(G;G)
Significance Other
Disease HEMOGLOBIN TAMPA HEMOGLOBIN TIGRAYE HEMOGLOBIN G (ACCRA) HEMOGLOBIN YAIZU
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TAMPA HEMOGLOBIN TIGRAYE HEMOGLOBIN G (ACCRA) HEMOGLOBIN YAIZU
Reversed 1
HGVS NC_000011.9:g.5247884C>A; NC_000011.9:g.5247884C>G; NC_000011.9:g.5247884C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016623.2, RCV000016786.2, RCV000016341.2, RCV000030906.2,


[PMID 7378467] Hemoglobin Tampa:beta 79 (EF3) aspartic acid replaced by tyrosine.


[PMID 8330977] Hb Tigraye or alpha 2 beta (2)79(EF3)Asp-->His(GAC-->CAC): a hemoglobin variant with increased oxygen affinity observed in an Ethiopian male.


[PMID 11570729] Hb Tigraye [beta79(EF3)Asp --> His] in a Caucasian family from Sardinia.


[PMID 7615399] Hb Yaizu [beta 79(EF3)Asp-->Asn]: a new beta chain variant found in a Japanese female.