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rs33930385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GG;GG) 0 common in clinvar
Make rs33930385(G;T)
Make rs33930385(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226642
GeneHBB
is asnp
is mentioned by
dbSNPrs33930385
ebirs33930385
HLIrs33930385
Exacrs33930385
Varsomers33930385
Maprs33930385
PheGenIrs33930385
hapmaprs33930385
1000 genomesrs33930385
hgdprs33930385
ensemblrs33930385
gopubmedrs33930385
geneviewrs33930385
scholarrs33930385
googlers33930385
pharmgkbrs33930385
gwascentralrs33930385
openSNPrs33930385
23andMers33930385
23andMe allrs33930385
SNP Nexus

SNPshotrs33930385
SNPdbers33930385
MSV3drs33930385
GWAS Ctlgrs33930385
Merged fromRs121909821, Rs121909826
Max Magnitude0
OMIM141900
Desc
Variant0277
Relatedalso
OMIM141900
Desc
Variant0432
Relatedalso
ClinVar
Risk rs33930385(C,T;C,T)
Alt rs33930385(C,T;C,T)
Reference rs33930385(G;G)
Significance Other
Disease HEMOGLOBIN TA-LI HEMOGLOBIN MUSKEGON
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TA-LI HEMOGLOBIN MUSKEGON
Reversed 1
HGVS NC_000011.9:g.5247872C>A; NC_000011.9:g.5247872C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016618.2, RCV000016785.2,


[PMID 5129589] Hemoglobin Ta-Li: 83 Gly leads to Cys.


[PMID 11838022] Characterization of the elusive disulfide bridge forming human Hb variant: Hb Ta-Li beta83 (EF7)Gly --> Cys by electrospray mass spectrometry.


[PMID 8454474] Hb Muskegon [beta 83(EF7)Gly-->Arg]: a new variant found in a family from the U.S.