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rs33941844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33941844(C;C)
Make rs33941844(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225722
GeneHBB
is asnp
is mentioned by
dbSNPrs33941844
ebirs33941844
HLIrs33941844
Exacrs33941844
Varsomers33941844
Maprs33941844
PheGenIrs33941844
hapmaprs33941844
1000 genomesrs33941844
hgdprs33941844
ensemblrs33941844
gopubmedrs33941844
geneviewrs33941844
scholarrs33941844
googlers33941844
pharmgkbrs33941844
gwascentralrs33941844
openSNPrs33941844
23andMers33941844
23andMe allrs33941844
SNP Nexus

SNPshotrs33941844
SNPdbers33941844
MSV3drs33941844
GWAS Ctlgrs33941844
Max Magnitude0
OMIM141900
Desc
Variant0265
Relatedalso
OMIM141900
Desc
Variant0287
Relatedalso
OMIM141900
Desc
Variant0398
Relatedalso
ClinVar
Risk rs33941844(A,C,G;A,C,G)
Alt rs33941844(A,C,G;A,C,G)
Reference rs33941844(T;T)
Significance Other
Disease HEMOGLOBIN TERRE HAUTE Beta-plus-thalassemia HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER HEMOGLOBIN TUBINGEN
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TERRE HAUTE Beta-plus-thalassemia HEMOGLOBIN SOUTHAMPTON HEMOGLOBIN CASPER HEMOGLOBIN TUBINGEN
Reversed 1
HGVS NC_000011.9:g.5246952A>C; NC_000011.9:g.5246952A>G; NC_000011.9:g.5246952A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016746.2, RCV000016747.26, RCV000016605.2, RCV000016606.2, RCV000016630.2,


[PMID 241397] Isolation and functional characterization of hemoglobin Casper: beta106(G8) Leu replaced by Pro.


[PMID 2910077] Hemoglobin Southampton (Casper): characterization of the base mutation.


[PMID 4743351] Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.


[PMID 16840233] Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy.


[PMID 1278400] Structural and functional characteristics of Hb Tubingen: beta 106 (G 8) Leu leads to Gln.


[PMID 8226097] Hb Tubingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family.


[PMID 1420507] Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.


[PMID 2005117] Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis.