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

rs1135071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1135071(G;T)
Make rs1135071(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226799
GeneHBB
is asnp
is mentioned by
dbSNPrs1135071
ebirs1135071
HLIrs1135071
Exacrs1135071
Varsomers1135071
Maprs1135071
PheGenIrs1135071
hapmaprs1135071
1000 genomesrs1135071
hgdprs1135071
ensemblrs1135071
gopubmedrs1135071
geneviewrs1135071
scholarrs1135071
googlers1135071
pharmgkbrs1135071
gwascentralrs1135071
openSNPrs1135071
23andMers1135071
23andMe allrs1135071
SNP Nexus

SNPshotrs1135071
SNPdbers1135071
MSV3drs1135071
GWAS Ctlgrs1135071
GMAF0.0004591
Max Magnitude0
OMIM141900
Desc
Variant0278
Relatedalso
ClinVar
Risk rs1135071(C,T;C,T)
Alt rs1135071(C,T;C,T)
Reference rs1135071(G;G)
Significance Pathogenic
Disease not specified Heinz body anemia
Variation info
Gene HBB
CLNDBN not specified Heinz body anemia
Reversed 1
HGVS NC_000011.9:g.5248029C>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016619.3, RCV000016620.26,


[PMID 5785231] Structural characterization of hemoglobin Tacoma.


[PMID 5869485] Hemoglobin tacoma--a beta-chain variant associated with increased hb A2.


[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.


[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.