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rs33947020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33947020(G;T)
Make rs33947020(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225683
GeneHBB
is asnp
is mentioned by
dbSNPrs33947020
ebirs33947020
HLIrs33947020
Exacrs33947020
Varsomers33947020
Maprs33947020
PheGenIrs33947020
hapmaprs33947020
1000 genomesrs33947020
hgdprs33947020
ensemblrs33947020
gopubmedrs33947020
geneviewrs33947020
scholarrs33947020
googlers33947020
pharmgkbrs33947020
gwascentralrs33947020
openSNPrs33947020
23andMers33947020
23andMe allrs33947020
SNP Nexus

SNPshotrs33947020
SNPdbers33947020
MSV3drs33947020
GWAS Ctlgrs33947020
Max Magnitude0
OMIM141900
Desc
Variant0026
Relatedalso
OMIM141900
Desc
Variant0394
Relatedalso
ClinVar
Risk rs33947020(A,C,T;A,C,T)
Alt rs33947020(A,C,T;A,C,T)
Reference rs33947020(G;G)
Significance Other
Disease HEMOGLOBIN BOUGARDIREY-MALI HEMOGLOBIN IOWA HEMOGLOBIN FANNIN-LUBBOCK HEMOGLOBIN MASUDA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BOUGARDIREY-MALI HEMOGLOBIN IOWA HEMOGLOBIN FANNIN-LUBBOCK HEMOGLOBIN MASUDA
Reversed 1
HGVS NC_000011.9:g.5246913C>A; NC_000011.9:g.5246913C>G; NC_000011.9:g.5246913C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016263.2, RCV000016743.2, RCV000016336.2, RCV000016486.2,


[PMID 500370] Hemoglobin Bougardirey-Mali beta 119 (GH2) Gly replaced by Val. An electrophoretically silent variant migrating in isoelectrofocusing as Hb F.


[PMID 15008260] Diagnosis and characterization of Hb C/Hb Iowa: a rare but easily misidentified compound heterozygous condition.


[PMID 15481899] DNA sequence of Hb Iowa.