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rs33929415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs33929415(C;G)
Make rs33929415(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225612
GeneHBB
is asnp
is mentioned by
dbSNPrs33929415
ebirs33929415
HLIrs33929415
Exacrs33929415
Varsomers33929415
Maprs33929415
PheGenIrs33929415
hapmaprs33929415
1000 genomesrs33929415
hgdprs33929415
ensemblrs33929415
gopubmedrs33929415
geneviewrs33929415
scholarrs33929415
googlers33929415
pharmgkbrs33929415
gwascentralrs33929415
openSNPrs33929415
23andMers33929415
23andMe allrs33929415
SNP Nexus

SNPshotrs33929415
SNPdbers33929415
MSV3drs33929415
GWAS Ctlgrs33929415
Max Magnitude0
OMIM141900
Desc
Variant0414
Relatedalso
OMIM141900
Desc
Variant0477
Relatedalso
ClinVar
Risk rs33929415(A,G,T;A,G,T)
Alt rs33929415(A,G,T;A,G,T)
Reference rs33929415(C;C)
Significance Other
Disease not specified HEMOGLOBIN RANCHO MIRAGE
Variation info
Gene HBB
CLNDBN not specified HEMOGLOBIN RANCHO MIRAGE
Reversed 1
HGVS NC_000011.9:g.5246842G>A; NC_000011.9:g.5246842G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016831.3, RCV000016765.2,


[PMID 1634360] Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH.


[PMID 9559035] Hemoglobin Old Dominion/Burton-upon-Trent, beta 143 (H21) His-->Tyr, codon 143 CAC-->TAC--a variant with altered oxygen affinity that compromises measurement of glycated hemoglobin in diabetes mellitus: structure, function, and DNA sequence.


[PMID 10870890] Two unrelated cases of Hb Old Dominion/Burton-upon-Trent [beta143(H21)His-->Tyr]: a rare variant causing spuriously elevated Hb A1c values.