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rs33926796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33926796(C;C)
Make rs33926796(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226767
GeneHBB
is asnp
is mentioned by
dbSNPrs33926796
ebirs33926796
HLIrs33926796
Exacrs33926796
Varsomers33926796
Maprs33926796
PheGenIrs33926796
hapmaprs33926796
1000 genomesrs33926796
hgdprs33926796
ensemblrs33926796
gopubmedrs33926796
geneviewrs33926796
scholarrs33926796
googlers33926796
pharmgkbrs33926796
gwascentralrs33926796
openSNPrs33926796
23andMers33926796
23andMe allrs33926796
SNP Nexus

SNPshotrs33926796
SNPdbers33926796
MSV3drs33926796
GWAS Ctlgrs33926796
Max Magnitude0
OMIM141900
Desc
Variant0174
Relatedalso
OMIM141900
Desc
Variant0441
Relatedalso
OMIM141900
Desc
Variant0511
Relatedalso
ClinVar
Risk rs33926796(A,C,G;A,C,G)
Alt rs33926796(A,C,G;A,C,G)
Reference rs33926796(T;T)
Significance Other
Disease HEMOGLOBIN ILMENAU HEMOGLOBIN DENVER HEMOGLOBIN MEQUON
Variation info
Gene HBB
CLNDBN HEMOGLOBIN ILMENAU HEMOGLOBIN DENVER HEMOGLOBIN MEQUON
Reversed 1
HGVS NC_000011.9:g.5247997A>C; NC_000011.9:g.5247997A>G; NC_000011.9:g.5247997A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016865.2, RCV000016795.2, RCV000016488.2,


[PMID 974262] Hemoglobin M equon beta 41 (C7) phenylalanine leads to tyrosine.


[PMID 8133661] Hemoglobin Denver [alpha 2 beta 2(41) (C7) Phe-->Ser]: a low-O2-affinity variant associated with chronic cyanosis and anemia.


[PMID 12144060] A new unstable hemoglobin variant with low oxygen affinity: Hb Ilmenau [beta41 (C7)Phe-->Cys].