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rs33972975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
(GG;GG) 0 common in clinvar
Make rs33972975(C;C)
Make rs33972975(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226949
GeneHBB
is asnp
is mentioned by
dbSNPrs33972975
ebirs33972975
HLIrs33972975
Exacrs33972975
Varsomers33972975
Maprs33972975
PheGenIrs33972975
hapmaprs33972975
1000 genomesrs33972975
hgdprs33972975
ensemblrs33972975
gopubmedrs33972975
geneviewrs33972975
scholarrs33972975
googlers33972975
pharmgkbrs33972975
gwascentralrs33972975
openSNPrs33972975
23andMers33972975
23andMe allrs33972975
SNP Nexus

SNPshotrs33972975
SNPdbers33972975
MSV3drs33972975
GWAS Ctlgrs33972975
Merged fromRs121909817
Max Magnitude0
OMIM141900
Desc
Variant0238
Relatedalso
ClinVar
Risk rs33972975(C;C)
Alt rs33972975(C;C)
Reference rs33972975(G;G)
Significance Other
Disease HEMOGLOBIN RIVERDALE-BRONX
Variation info
Gene HBB
CLNDBN HEMOGLOBIN RIVERDALE-BRONX
Reversed 1
HGVS NC_000011.9:g.5248179C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016567.2,


[PMID 4724601] Control of human hemoglobin synthesis: translation of globin chains in heterozygotes with hemoglobin Riverdale-Bronx.


[PMID 5458024] Globin chain synthesis in heterozygotes for beta chain mutations.


[PMID 5705748] Hemoglobin Riverdale-Bronx an unstable hemoglobin resulting from the substitution of arginine for glycine at helical residue B6 of the B beta polypeptide chain.