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rs36081208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs36081208(C;C)
Make rs36081208(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226602
GeneHBB
is asnp
is mentioned by
dbSNPrs36081208
dbSNP (classic)rs36081208
ClinGenrs36081208
ebirs36081208
HLIrs36081208
Exacrs36081208
Gnomadrs36081208
Varsomers36081208
LitVarrs36081208
Maprs36081208
PheGenIrs36081208
Biobankrs36081208
1000 genomesrs36081208
hgdprs36081208
ensemblrs36081208
geneviewrs36081208
scholarrs36081208
googlers36081208
pharmgkbrs36081208
gwascentralrs36081208
openSNPrs36081208
23andMers36081208
SNPshotrs36081208
SNPdbers36081208
MSV3drs36081208
GWAS Ctlgrs36081208
Max Magnitude0
OMIM141900
Desc
Variant0462
Relatedalso


ClinVar
Risk rs36081208(C;C)
Alt rs36081208(C;C)
Reference Rs36081208(T;T)
Significance Other
Disease HEMOGLOBIN DEBROUSSE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN DEBROUSSE
Reversed 1
HGVS NC_000011.9:g.5247832A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016816.2,



[PMID 8602627] Hemoglobin Debrousse (beta 96[FG3]Leu-->Pro): a new unstable hemoglobin with twofold increased oxygen affinity.