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rs33971848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33971848(C;C)
Make rs33971848(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225675
GeneHBB
is asnp
is mentioned by
dbSNPrs33971848
ebirs33971848
HLIrs33971848
Exacrs33971848
Varsomers33971848
Maprs33971848
PheGenIrs33971848
hapmaprs33971848
1000 genomesrs33971848
hgdprs33971848
ensemblrs33971848
gopubmedrs33971848
geneviewrs33971848
scholarrs33971848
googlers33971848
pharmgkbrs33971848
gwascentralrs33971848
openSNPrs33971848
23andMers33971848
23andMe allrs33971848
SNP Nexus

SNPshotrs33971848
SNPdbers33971848
MSV3drs33971848
GWAS Ctlgrs33971848
Max Magnitude0
OMIM141900
Desc
Variant0492
Relatedalso
OMIM141900
Desc
Variant0493
Relatedalso
ClinVar
Risk rs33971848(A,C,G;A,C,G)
Alt rs33971848(A,C,G;A,C,G)
Reference rs33971848(T;T)
Significance Other
Disease HEMOGLOBIN BUSHEY HEMOGLOBIN CASABLANCA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BUSHEY HEMOGLOBIN CASABLANCA
Reversed 1
HGVS NC_000011.9:g.5246905A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016847.2, RCV000016848.2,


[PMID 10870883] Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe-->Leu] and Hb Casablanca [beta65(E9)lys-->Met; beta122(GH5)Phe-->Leu].