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rs33995148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33995148(A;G)
Make rs33995148(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226708
GeneHBB
is asnp
is mentioned by
dbSNPrs33995148
ebirs33995148
HLIrs33995148
Exacrs33995148
Varsomers33995148
Maprs33995148
PheGenIrs33995148
hapmaprs33995148
1000 genomesrs33995148
hgdprs33995148
ensemblrs33995148
gopubmedrs33995148
geneviewrs33995148
scholarrs33995148
googlers33995148
pharmgkbrs33995148
gwascentralrs33995148
openSNPrs33995148
23andMers33995148
23andMe allrs33995148
SNP Nexus

SNPshotrs33995148
SNPdbers33995148
MSV3drs33995148
GWAS Ctlgrs33995148
Max Magnitude0
OMIM141900
Desc
Variant0190
Relatedalso
OMIM141900
Desc
Variant0317
Relatedalso
OMIM141900
Desc
Variant0514
Relatedalso
ClinVar
Risk rs33995148(C,G,T;C,G,T)
Alt rs33995148(C,G,T;C,G,T)
Reference rs33995148(A;A)
Significance Other
Disease beta^0^ Thalassemia HEMOGLOBIN N (SEATTLE) HEMOGLOBIN POCOS DE CALDAS
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia HEMOGLOBIN N (SEATTLE) HEMOGLOBIN POCOS DE CALDAS
Reversed 1
HGVS NC_000011.9:g.5247938T>A; NC_000011.9:g.5247938T>C; NC_000011.9:g.5247938T>G
CLNSRC OMIM Allelic Variant HBVAR
CLNACC RCV000016661.23, RCV000016510.2, RCV000016870.2,


[PMID 5637049] Structural characterization of hemoglobin-N-Seattle.


[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.


[PMID 12484633] A novel beta-globin variant: Hb Pocos de Caldas [beta 61(E5)Lys-->Gln].