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rs33920173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33920173(G;G)
Make rs33920173(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226797
GeneHBB
is asnp
is mentioned by
dbSNPrs33920173
ebirs33920173
HLIrs33920173
Exacrs33920173
Varsomers33920173
Maprs33920173
PheGenIrs33920173
hapmaprs33920173
1000 genomesrs33920173
hgdprs33920173
ensemblrs33920173
gopubmedrs33920173
geneviewrs33920173
scholarrs33920173
googlers33920173
pharmgkbrs33920173
gwascentralrs33920173
openSNPrs33920173
23andMers33920173
23andMe allrs33920173
SNP Nexus

SNPshotrs33920173
SNPdbers33920173
MSV3drs33920173
GWAS Ctlgrs33920173
Max Magnitude0
OMIM141900
Desc
Variant0218
Relatedalso
OMIM141900
Desc
Variant0304
Relatedalso
ClinVar
Risk rs33920173(C,G;C,G)
Alt rs33920173(C,G;C,G)
Reference rs33920173(T;T)
Significance Other
Disease HEMOGLOBIN YOKOHAMA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN YOKOHAMA
Reversed 1
HGVS NC_000011.9:g.5248027A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016647.2,


[PMID 1814855] Hb Yokohama [beta 31 (B13)Leu----Pro] detected as a de novo mutation in a Yugoslavian boy.


[PMID 7338469] A new unstable hemoglobin, Hb Yokohama beta 31 (B13)Leu substituting for Pro, causing hemolytic anemia.


[PMID 7558872] Hb Hakkari or alpha 2 beta 2 31(B13)Leu-->Arg, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow.