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rs33978082

From SNPedia

Orientationminus
Stabilizedminus
Make rs33978082(A;A)
Make rs33978082(A;T)
Make rs33978082(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225692
GeneHBB
is asnp
is mentioned by
dbSNPrs33978082
ebirs33978082
HLIrs33978082
Exacrs33978082
Varsomers33978082
Maprs33978082
PheGenIrs33978082
hapmaprs33978082
1000 genomesrs33978082
hgdprs33978082
ensemblrs33978082
gopubmedrs33978082
geneviewrs33978082
scholarrs33978082
googlers33978082
pharmgkbrs33978082
gwascentralrs33978082
openSNPrs33978082
23andMers33978082
23andMe allrs33978082
SNP Nexus

SNPshotrs33978082
SNPdbers33978082
MSV3drs33978082
GWAS Ctlgrs33978082
Merged fromRs111033582
Max Magnitude

[PMID 12908805] Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu].

ClinVar
Risk rs33978082(C,G,T;C,G,T)
Alt rs33978082(C,G,T;C,G,T)
Reference rs33978082(A;A)
Significance Other
Disease HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HEMOGLOBIN SAITAMA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN P HEMOGLOBIN P (GALVESTON) HEMOGLOBIN SAITAMA
Reversed 1
HGVS NC_000011.9:g.5246922T>C; NC_000011.9:g.5246922T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016538.2, RCV000016539.2, RCV000016583.2,