Have questions? Visit https://www.reddit.com/r/SNPedia

rs33972927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33972927(C;C)
Make rs33972927(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226612
GeneHBB
is asnp
is mentioned by
dbSNPrs33972927
ebirs33972927
HLIrs33972927
Exacrs33972927
Varsomers33972927
Maprs33972927
PheGenIrs33972927
hapmaprs33972927
1000 genomesrs33972927
hgdprs33972927
ensemblrs33972927
gopubmedrs33972927
geneviewrs33972927
scholarrs33972927
googlers33972927
pharmgkbrs33972927
gwascentralrs33972927
openSNPrs33972927
23andMers33972927
23andMe allrs33972927
SNP Nexus

SNPshotrs33972927
SNPdbers33972927
MSV3drs33972927
GWAS Ctlgrs33972927
Max Magnitude0
OMIM141900
Desc
Variant0207
Relatedalso
OMIM141900
Desc
Variant0407
Relatedalso


ClinVar
Risk rs33972927(C;C)
Alt rs33972927(C;C)
Reference rs33972927(T;T)
Significance Other
Disease HEMOGLOBIN OKAZAKI HEMOGLOBIN CLEVELAND
Variation info
Gene HBB
CLNDBN HEMOGLOBIN OKAZAKI HEMOGLOBIN CLEVELAND
Reversed 1
HGVS NC_000011.9:g.5247842A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000016530.2, RCV000016758.2,



[PMID 6745435] Hb Okazaki [beta 93(F8) Cys----Arg], a new hemoglobin variant with increased oxygen affinity and instability.