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rs33946775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33946775(A;C)
Make rs33946775(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225643
GeneHBB
is asnp
is mentioned by
dbSNPrs33946775
ebirs33946775
HLIrs33946775
Exacrs33946775
Varsomers33946775
Maprs33946775
PheGenIrs33946775
hapmaprs33946775
1000 genomesrs33946775
hgdprs33946775
ensemblrs33946775
gopubmedrs33946775
geneviewrs33946775
scholarrs33946775
googlers33946775
pharmgkbrs33946775
gwascentralrs33946775
openSNPrs33946775
23andMers33946775
23andMe allrs33946775
SNP Nexus

SNPshotrs33946775
SNPdbers33946775
MSV3drs33946775
GWAS Ctlgrs33946775
Max Magnitude0
OMIM141900
Desc
Variant0302
Relatedalso
ClinVar
Risk rs33946775(C,T;C,T)
Alt rs33946775(C,T;C,T)
Reference rs33946775(A;A)
Significance Untested
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5246873T>A; NC_000011.9:g.5246873T>G
CLNSRC
CLNACC


[PMID 2272843] Hb Yamagata [beta 132(H10)Lys----Asn]: a new abnormal hemoglobin in a Japanese family.


[PMID 8811322] A new observation of Hb Yamagata with a different nucleotide substitution: beta 132 AAA-->AAT.