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rs33931806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33931806(C;C)
Make rs33931806(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225615
GeneHBB
is asnp
is mentioned by
dbSNPrs33931806
ebirs33931806
HLIrs33931806
Exacrs33931806
Varsomers33931806
Maprs33931806
PheGenIrs33931806
hapmaprs33931806
1000 genomesrs33931806
hgdprs33931806
ensemblrs33931806
gopubmedrs33931806
geneviewrs33931806
scholarrs33931806
googlers33931806
pharmgkbrs33931806
gwascentralrs33931806
openSNPrs33931806
23andMers33931806
23andMe allrs33931806
SNP Nexus

SNPshotrs33931806
SNPdbers33931806
MSV3drs33931806
GWAS Ctlgrs33931806
Max Magnitude0
OMIM141900
Desc
Variant0286
Relatedalso
ClinVar
Risk rs33931806(A,C;A,C)
Alt rs33931806(A,C;A,C)
Reference rs33931806(G;G)
Significance Other
Disease HEMOGLOBIN TOYOAKE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN TOYOAKE
Reversed 1
HGVS NC_000011.9:g.5246845C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016628.2,


[PMID 7419426] Unstable hemoglobins in Japan.


[PMID 7470620] Hb Toyoake: beta 142 (H20) Ala replaced by Pro. A new unstable hemoglobin with high oxygen affinity.


[PMID 12403495] Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].