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rs33969400

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(AA;AA) 0 common in clinvar
Make rs33969400(A;G)
Make rs33969400(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226714
GeneHBB
is asnp
is mentioned by
dbSNPrs33969400
ebirs33969400
HLIrs33969400
Exacrs33969400
Varsomers33969400
Maprs33969400
PheGenIrs33969400
hapmaprs33969400
1000 genomesrs33969400
hgdprs33969400
ensemblrs33969400
gopubmedrs33969400
geneviewrs33969400
scholarrs33969400
googlers33969400
pharmgkbrs33969400
gwascentralrs33969400
openSNPrs33969400
23andMers33969400
23andMe allrs33969400
SNP Nexus

SNPshotrs33969400
SNPdbers33969400
MSV3drs33969400
GWAS Ctlgrs33969400
Merged fromRs121909810
Max Magnitude0
OMIM141900
Desc
Variant0115
Relatedalso
ClinVar
Risk rs33969400(G,T;G,T)
Alt rs33969400(G,T;G,T)
Reference rs33969400(A;A)
Significance Other
Disease HEMOGLOBIN I (HIGH WYCOMBE)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN I (HIGH WYCOMBE)
Reversed 1
HGVS NC_000011.9:g.5247944T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016389.2,


[PMID 3583766] Hemoglobin I High Wycombe in an Australian family.


[PMID 10870888] Hb I-high Wycombe [beta59(E3)Lys-->Glu]: the first instance in Japan.


[PMID 12908806] Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)].