Have questions? Visit https://www.reddit.com/r/SNPedia

rs33931779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33931779(C;C)
Make rs33931779(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226710
GeneHBB
is asnp
is mentioned by
dbSNPrs33931779
ebirs33931779
HLIrs33931779
Exacrs33931779
Varsomers33931779
Maprs33931779
PheGenIrs33931779
hapmaprs33931779
1000 genomesrs33931779
hgdprs33931779
ensemblrs33931779
gopubmedrs33931779
geneviewrs33931779
scholarrs33931779
googlers33931779
pharmgkbrs33931779
gwascentralrs33931779
openSNPrs33931779
23andMers33931779
23andMe allrs33931779
SNP Nexus

SNPshotrs33931779
SNPdbers33931779
MSV3drs33931779
GWAS Ctlgrs33931779
Max Magnitude0
OMIM141900
Desc
Variant0053
Relatedalso
OMIM141900
Desc
Variant0321
Relatedalso
ClinVar
Risk rs33931779(A,C;A,C)
Alt rs33931779(A,C;A,C)
Reference rs33931779(T;T)
Significance Other
Disease HEMOGLOBIN COLLINGWOOD Beta-plus-thalassemia HEMOGLOBIN CAGLIARI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN COLLINGWOOD Beta-plus-thalassemia HEMOGLOBIN CAGLIARI
Reversed 1
HGVS NC_000011.9:g.5247940A>G; NC_000011.9:g.5247940A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016304.2, RCV000016666.27, RCV000016667.3,


[PMID 6421773] Hemoglobin Collingwood beta 60 (E4) Val replaced by Ala. A new unstable hemoglobin.


[PMID 1985702] Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.