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rs33983205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33983205(A;G)
Make rs33983205(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227014
GeneHBB
is asnp
is mentioned by
dbSNPrs33983205
ebirs33983205
HLIrs33983205
Exacrs33983205
Varsomers33983205
Maprs33983205
PheGenIrs33983205
hapmaprs33983205
1000 genomesrs33983205
hgdprs33983205
ensemblrs33983205
gopubmedrs33983205
geneviewrs33983205
scholarrs33983205
googlers33983205
pharmgkbrs33983205
gwascentralrs33983205
openSNPrs33983205
23andMers33983205
23andMe allrs33983205
SNP Nexus

SNPshotrs33983205
SNPdbers33983205
MSV3drs33983205
GWAS Ctlgrs33983205
Max Magnitude0
OMIM141900
Desc
Variant0066
Relatedalso
OMIM141900
Desc
Variant0171
Relatedalso
OMIM141900
Desc
Variant0429
Relatedalso
ClinVar
Risk rs33983205(C,G,T;C,G,T)
Alt rs33983205(C,G,T;C,G,T)
Reference rs33983205(A;A)
Significance Other
Disease HEMOGLOBIN GRAZ HEMOGLOBIN DEER LODGE not specified
Variation info
Gene HBB
CLNDBN HEMOGLOBIN GRAZ HEMOGLOBIN DEER LODGE not specified
Reversed 1
HGVS NC_000011.9:g.5248244T>A; NC_000011.9:g.5248244T>C; NC_000011.9:g.5248244T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016782.2, RCV000016324.2, RCV000016485.3,


[PMID 393] Hemoglobin Deer Lodge (beta 2 His replaced by Arg). Consequences of altering the 2,3-diphosphoglycerate binding site.


[PMID 5022448] Hemoglobin Deer Lodge: 2 2 2 His leads to Arg .


[PMID 1487420] Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria.