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rs33956485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33956485(C;C)
Make rs33956485(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5232983
GeneHBD
is asnp
is mentioned by
dbSNPrs33956485
dbSNP (classic)rs33956485
ClinGenrs33956485
ebirs33956485
HLIrs33956485
Exacrs33956485
Gnomadrs33956485
Varsomers33956485
LitVarrs33956485
Maprs33956485
PheGenIrs33956485
Biobankrs33956485
1000 genomesrs33956485
hgdprs33956485
ensemblrs33956485
geneviewrs33956485
scholarrs33956485
googlers33956485
pharmgkbrs33956485
gwascentralrs33956485
openSNPrs33956485
23andMers33956485
SNPshotrs33956485
SNPdbers33956485
MSV3drs33956485
GWAS Ctlgrs33956485
Max Magnitude0
? (C;C) (C;T) (T;T) 28


OMIM142000
Desc
Variant0031
Relatedalso


ClinVar
Risk rs33956485(C;C)
Alt rs33956485(C;C)
Reference Rs33956485(T;T)
Significance Other
Disease HEMOGLOBIN A(2) PELENDRI
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) PELENDRI
Reversed 1
HGVS NC_000011.9:g.5254213A>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016212.1,



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