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rs33973589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33973589(C;G)
Make rs33973589(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225673
GeneHBB
is asnp
is mentioned by
dbSNPrs33973589
ebirs33973589
HLIrs33973589
Exacrs33973589
Varsomers33973589
Maprs33973589
PheGenIrs33973589
hapmaprs33973589
1000 genomesrs33973589
hgdprs33973589
ensemblrs33973589
gopubmedrs33973589
geneviewrs33973589
scholarrs33973589
googlers33973589
pharmgkbrs33973589
gwascentralrs33973589
openSNPrs33973589
23andMers33973589
23andMe allrs33973589
SNP Nexus

SNPshotrs33973589
SNPdbers33973589
MSV3drs33973589
GWAS Ctlgrs33973589
Max Magnitude0
OMIM141900
Desc
Variant0492
Relatedalso
OMIM141900
Desc
Variant0493
Relatedalso
ClinVar
Risk rs33973589(A;A) rs33973589(G;G) rs33973589(T;T)
Alt rs33973589(A;A) rs33973589(G;G) rs33973589(T;T)
Reference Rs33973589(C;C)
Significance Untested
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5246903G>C; NC_000011.9:g.5246903G>T
CLNSRC
CLNACC


[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].