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rs36008922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs36008922(A;A)
Make rs36008922(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226690
GeneHBB
is asnp
is mentioned by
dbSNPrs36008922
ebirs36008922
HLIrs36008922
Exacrs36008922
Varsomers36008922
Maprs36008922
PheGenIrs36008922
hapmaprs36008922
1000 genomesrs36008922
hgdprs36008922
ensemblrs36008922
gopubmedrs36008922
geneviewrs36008922
scholarrs36008922
googlers36008922
pharmgkbrs36008922
gwascentralrs36008922
openSNPrs36008922
23andMers36008922
23andMe allrs36008922
SNP Nexus

SNPshotrs36008922
SNPdbers36008922
MSV3drs36008922
GWAS Ctlgrs36008922
Max Magnitude0
OMIM141900
Desc
Variant0030
Relatedalso
OMIM141900
Desc
Variant0447
Relatedalso


ClinVar
Risk rs36008922(A;A)
Alt rs36008922(A;A)
Reference rs36008922(G;G)
Significance Other
Disease HEMOGLOBIN BRISTOL HEMOGLOBIN ALESHA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BRISTOL HEMOGLOBIN ALESHA
Reversed 1
HGVS NC_000011.9:g.5247920C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016276.2, RCV000016801.2,



[PMID 8330974] Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.


[PMID 15646651] Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy.