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rs33993004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33993004(A;A)
Make rs33993004(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position5226782
GeneHBB
is asnp
is mentioned by
dbSNPrs33993004
ebirs33993004
HLIrs33993004
Exacrs33993004
Varsomers33993004
Maprs33993004
PheGenIrs33993004
hapmaprs33993004
1000 genomesrs33993004
hgdprs33993004
ensemblrs33993004
gopubmedrs33993004
geneviewrs33993004
scholarrs33993004
googlers33993004
pharmgkbrs33993004
gwascentralrs33993004
openSNPrs33993004
23andMers33993004
23andMe allrs33993004
SNP Nexus

SNPshotrs33993004
SNPdbers33993004
MSV3drs33993004
GWAS Ctlgrs33993004
Max Magnitude0
OMIM141900
Desc
Variant0273
Relatedalso
OMIM141900
Desc
Variant0490
Relatedalso


ClinVar
Risk rs33993004(A,G;A,G)
Alt rs33993004(A,G;A,G)
Reference rs33993004(C;C)
Significance Other
Disease HEMOGLOBIN SUNNYBROOK HEMOGLOBIN VILA REAL
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SUNNYBROOK HEMOGLOBIN VILA REAL
Reversed 1
HGVS NC_000011.9:g.5248012G>C; NC_000011.9:g.5248012G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016614.2, RCV000016845.2,



[PMID 3384706] Some rare hemoglobin variants with altered oxygen affinities; Hb linkoping [beta 36(C2)Pro----Thr], Hb Caribbean [beta 91(F7)Leu----Arg], and Hb Sunnybrook [beta 36(C2)Pro----Arg].


[PMID 10722117] Hb Vila Real [beta36(C2)Pro-->His]: a newly discovered high oxygen affinity variant.


[PMID 11939509] Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation.