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rs33969853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in complete genomics
(A;A) 0 common in clinvar
Make rs33969853(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226675
GeneHBB
is asnp
is mentioned by
dbSNPrs33969853
ebirs33969853
HLIrs33969853
Exacrs33969853
Varsomers33969853
Maprs33969853
PheGenIrs33969853
hapmaprs33969853
1000 genomesrs33969853
hgdprs33969853
ensemblrs33969853
gopubmedrs33969853
geneviewrs33969853
scholarrs33969853
googlers33969853
pharmgkbrs33969853
gwascentralrs33969853
openSNPrs33969853
23andMers33969853
23andMe allrs33969853
SNP Nexus

SNPshotrs33969853
SNPdbers33969853
MSV3drs33969853
GWAS Ctlgrs33969853
Max Magnitude0
OMIM141900
Desc
Variant0328
Relatedalso
OMIM141900
Desc
Variant0343
Relatedalso
ClinVar
Risk rs33969853(AA,TA;AA,TA)
Alt rs33969853(AA,TA;AA,TA)
Reference rs33969853(A;A)
Significance Pathogenic
Disease beta^0^ Thalassemia
Variation info
Gene HBB
CLNDBN beta^0^ Thalassemia
Reversed 1
HGVS NC_000011.9:g.5247905dupT; NC_000011.9:g.5247906dupA
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016675.26, RCV000016690.25,


[PMID 6585831OA-icon.png] beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.