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rs33932981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33932981(A;C)
Make rs33932981(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226996
GeneHBB
is asnp
is mentioned by
dbSNPrs33932981
ebirs33932981
HLIrs33932981
Exacrs33932981
Varsomers33932981
Maprs33932981
PheGenIrs33932981
hapmaprs33932981
1000 genomesrs33932981
hgdprs33932981
ensemblrs33932981
gopubmedrs33932981
geneviewrs33932981
scholarrs33932981
googlers33932981
pharmgkbrs33932981
gwascentralrs33932981
openSNPrs33932981
23andMers33932981
23andMe allrs33932981
SNP Nexus

SNPshotrs33932981
SNPdbers33932981
MSV3drs33932981
GWAS Ctlgrs33932981
Max Magnitude0
OMIM141900
Desc
Variant0237
Relatedalso
OMIM141900
Desc
Variant0460
Relatedalso
OMIM141900
Desc
Variant0484
Relatedalso
ClinVar
Risk rs33932981(C,G,T;C,G,T)
Alt rs33932981(C,G,T;C,G,T)
Reference rs33932981(A;A)
Significance Other
Disease HEMOGLOBIN NAKANO HEMOGLOBIN LUCKNOW HEMOGLOBIN RIO GRANDE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN NAKANO HEMOGLOBIN LUCKNOW HEMOGLOBIN RIO GRANDE
Reversed 1
HGVS NC_000011.9:g.5248226T>A; NC_000011.9:g.5248226T>C; NC_000011.9:g.5248226T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016814.2, RCV000016839.2, RCV000030668.2,


[PMID 6857757] Hemoglobin Rio Grande [beta 8 (A5) Lys leads to Thr] a new variant found in a Mexican-American family.


[PMID 8718698] Hb Nakano [beta 8(Lys-->Met]: a new beta chain variant found in a Japanese woman.


[PMID 10490139] A novel Indian beta-thalassemia mutation: Hb Lucknow [beta8(A5)Lys-->Arg]].