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rs33994623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
(TG;TG) 0 common in clinvar
Make rs33994623(A;A)
Make rs33994623(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226780
GeneHBB
is asnp
is mentioned by
dbSNPrs33994623
ebirs33994623
HLIrs33994623
Exacrs33994623
Varsomers33994623
Maprs33994623
PheGenIrs33994623
hapmaprs33994623
1000 genomesrs33994623
hgdprs33994623
ensemblrs33994623
gopubmedrs33994623
geneviewrs33994623
scholarrs33994623
googlers33994623
pharmgkbrs33994623
gwascentralrs33994623
openSNPrs33994623
23andMers33994623
23andMe allrs33994623
SNP Nexus

SNPshotrs33994623
SNPdbers33994623
MSV3drs33994623
GWAS Ctlgrs33994623
Merged fromRs121909827
Max Magnitude0
OMIM141900
Desc
Variant0241
Relatedalso
OMIM141900
Desc
Variant0440
Relatedalso
ClinVar
Risk rs33994623(A,C,G;A,C,G)
Alt rs33994623(A,C,G;A,C,G)
Reference rs33994623(T;T)
Significance Other
Disease HEMOGLOBIN HOWICK HEMOGLOBIN ROTHSCHILD
Variation info
Gene HBB
CLNDBN HEMOGLOBIN HOWICK HEMOGLOBIN ROTHSCHILD
Reversed 1
HGVS NC_000011.9:g.5248010A>C; NC_000011.9:g.5248010A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016794.2, RCV000016571.2,


[PMID 913596] Structural and functional studies of Hb Rothschild beta (C3) Trp replaced by Arg. A new variant of the alpha1beta2 contact.


[PMID 7068435] Hb Rothschild (beta 37 (C2) Trp leads to Arg): clinical studies.


[PMID 7391018] Refolding defects in hemoglobin Rothschild.


[PMID 8144352] Hb Howick [beta 37(C3)Trp-->Gly]: a new high oxygen affinity variant of the alpha 1 beta 2 contact.