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rs33971270

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33971270(C;T)
Make rs33971270(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5233059
GeneHBD
is asnp
is mentioned by
dbSNPrs33971270
dbSNP (classic)rs33971270
ClinGenrs33971270
ebirs33971270
HLIrs33971270
Exacrs33971270
Gnomadrs33971270
Varsomers33971270
LitVarrs33971270
Maprs33971270
PheGenIrs33971270
Biobankrs33971270
1000 genomesrs33971270
hgdprs33971270
ensemblrs33971270
geneviewrs33971270
scholarrs33971270
googlers33971270
pharmgkbrs33971270
gwascentralrs33971270
openSNPrs33971270
23andMers33971270
SNPshotrs33971270
SNPdbers33971270
MSV3drs33971270
GWAS Ctlgrs33971270
Max Magnitude0
OMIM142000
Desc
Variant0024
Relatedalso
? (C;C) (C;T)


ClinVar
Risk rs33971270(G;G) rs33971270(T;T)
Alt rs33971270(G;G) rs33971270(T;T)
Reference Rs33971270(C;C)
Significance Other
Disease HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) CORFU HEMOGLOBIN A(2) TROODOS
Reversed 1
HGVS NC_000011.9:g.5254289G>A
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016216.1, RCV000016217.1,



[PMID 1742490] Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.