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rs36020563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs36020563(A;A)
Make rs36020563(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225610
GeneHBB
is asnp
is mentioned by
dbSNPrs36020563
ebirs36020563
HLIrs36020563
Exacrs36020563
Varsomers36020563
Maprs36020563
PheGenIrs36020563
hapmaprs36020563
1000 genomesrs36020563
hgdprs36020563
ensemblrs36020563
gopubmedrs36020563
geneviewrs36020563
scholarrs36020563
googlers36020563
pharmgkbrs36020563
gwascentralrs36020563
openSNPrs36020563
23andMers36020563
23andMe allrs36020563
SNP Nexus

SNPshotrs36020563
SNPdbers36020563
MSV3drs36020563
GWAS Ctlgrs36020563
GMAF0.0004591
Max Magnitude0
OMIM141900
Desc
Variant0159
Relatedalso
ClinVar
Risk rs36020563(A,G,T;A,G,T)
Alt rs36020563(A,G,T;A,G,T)
Reference rs36020563(C;C)
Significance Probable-non-pathogenic
Disease beta Thalassemia
Variation info
Gene HBB
CLNDBN beta Thalassemia
Reversed 1
HGVS NC_000011.9:g.5246840G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029997.1,


[PMID 4811903] Hemoglobin Little Rock (beta143 (H21) His leads to Gln). Effects of an amino acid substitution at the 2,3-diphosphoglycerate binding site.