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rs33993568

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33993568(A;A)
Make rs33993568(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226629
GeneHBB
is asnp
is mentioned by
dbSNPrs33993568
dbSNP (classic)rs33993568
ClinGenrs33993568
ebirs33993568
HLIrs33993568
Exacrs33993568
Gnomadrs33993568
Varsomers33993568
LitVarrs33993568
Maprs33993568
PheGenIrs33993568
Biobankrs33993568
1000 genomesrs33993568
hgdprs33993568
ensemblrs33993568
geneviewrs33993568
scholarrs33993568
googlers33993568
pharmgkbrs33993568
gwascentralrs33993568
openSNPrs33993568
23andMers33993568
SNPshotrs33993568
SNPdbers33993568
MSV3drs33993568
GWAS Ctlgrs33993568
Max Magnitude0
OMIM141900
Desc
Variant0062
Relatedalso
OMIM141900
Desc
Variant0403
Relatedalso
ClinVar
Risk rs33993568(A;A) rs33993568(T;T)
Alt rs33993568(A;A) rs33993568(T;T)
Reference Rs33993568(C;C)
Significance Other
Disease not specified HEMOGLOBIN D (IBADAN)
Variation info
Gene HBB
CLNDBN not specified HEMOGLOBIN D (IBADAN)
Reversed 1
HGVS NC_000011.9:g.5247859G>A; NC_000011.9:g.5247859G>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016753.3, RCV000016313.2,


[PMID 457424] Hemoglobin D Ibadan trait in combination with sigma beta thalassemia.


[PMID 1891024] Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori.