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rs33945705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33945705(A;A)
Make rs33945705(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226672
GeneHBB
is asnp
is mentioned by
dbSNPrs33945705
ebirs33945705
HLIrs33945705
Exacrs33945705
Varsomers33945705
Maprs33945705
PheGenIrs33945705
hapmaprs33945705
1000 genomesrs33945705
hgdprs33945705
ensemblrs33945705
gopubmedrs33945705
geneviewrs33945705
scholarrs33945705
googlers33945705
pharmgkbrs33945705
gwascentralrs33945705
openSNPrs33945705
23andMers33945705
23andMe allrs33945705
SNP Nexus

SNPshotrs33945705
SNPdbers33945705
MSV3drs33945705
GWAS Ctlgrs33945705
Max Magnitude0
OMIM141900
Desc
Variant0039
Relatedalso
OMIM141900
Desc
Variant0153
Relatedalso
OMIM141900
Desc
Variant0291
Relatedalso
ClinVar
Risk rs33945705(A,T;A,T)
Alt rs33945705(A,T;A,T)
Reference rs33945705(G;G)
Significance Other
Disease HEMOGLOBIN VANCOUVER HEMOGLOBIN ZIGUINCHOR HEMOGLOBIN KORLE-BU
Variation info
Gene HBB
CLNDBN HEMOGLOBIN VANCOUVER HEMOGLOBIN ZIGUINCHOR HEMOGLOBIN KORLE-BU
Reversed 1
HGVS NC_000011.9:g.5247902C>A; NC_000011.9:g.5247902C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016634.2, RCV000016286.3, RCV000016449.2,


[PMID 640852] Clinical and hematological studies in a family with hemoglobin Vancouver.


[PMID 1018330] Hemoglobin Vancouver [alpha2beta2(73)(E17) Asp replaced by Tyr]: its structure and function.


[PMID 5722880OA-icon.png] Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem.


[PMID 7691242] Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected].