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rs33917628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33917628(A;A)
Make rs33917628(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226623
GeneHBB
is asnp
is mentioned by
dbSNPrs33917628
ebirs33917628
HLIrs33917628
Exacrs33917628
Varsomers33917628
Maprs33917628
PheGenIrs33917628
hapmaprs33917628
1000 genomesrs33917628
hgdprs33917628
ensemblrs33917628
gopubmedrs33917628
geneviewrs33917628
scholarrs33917628
googlers33917628
pharmgkbrs33917628
gwascentralrs33917628
openSNPrs33917628
23andMers33917628
23andMe allrs33917628
SNP Nexus

SNPshotrs33917628
SNPdbers33917628
MSV3drs33917628
GWAS Ctlgrs33917628
Max Magnitude0
OMIM141900
Desc
Variant0059
Relatedalso
OMIM141900
Desc
Variant0439
Relatedalso
ClinVar
Risk rs33917628(A,C;A,C)
Alt rs33917628(A,C;A,C)
Reference rs33917628(G;G)
Significance Other
Disease HEMOGLOBIN VILLAVERDE HEMOGLOBIN CRETEIL
Variation info
Gene HBB
CLNDBN HEMOGLOBIN VILLAVERDE HEMOGLOBIN CRETEIL
Reversed 1
HGVS NC_000011.9:g.5247853C>G; NC_000011.9:g.5247853C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016793.2, RCV000016310.2,


[PMID 6790544] The structure of hemoglobin Creteil (beta 89 Ser replaced by Asn) is similar to that of abnormal human hemoglobins having sequence changes at Tyr 145 beta.


[PMID 8241293] Hb Villaverde [beta 89 (F5) Ser-->Thr]: the structural modification of an intrasubunit contact is responsible for a high oxygen affinity.