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rs36006214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs36006214(G;T)
Make rs36006214(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226968
GeneHBB
is asnp
is mentioned by
dbSNPrs36006214
dbSNP (classic)rs36006214
ClinGenrs36006214
ebirs36006214
HLIrs36006214
Exacrs36006214
Gnomadrs36006214
Varsomers36006214
LitVarrs36006214
Maprs36006214
PheGenIrs36006214
Biobankrs36006214
1000 genomesrs36006214
hgdprs36006214
ensemblrs36006214
geneviewrs36006214
scholarrs36006214
googlers36006214
pharmgkbrs36006214
gwascentralrs36006214
openSNPrs36006214
23andMers36006214
SNPshotrs36006214
SNPdbers36006214
MSV3drs36006214
GWAS Ctlgrs36006214
Max Magnitude0
OMIM141900
Desc
Variant0120
Relatedalso
ClinVar
Risk rs36006214(C;C) rs36006214(T;T)
Alt rs36006214(C;C) rs36006214(T;T)
Reference Rs36006214(G;G)
Significance Other
Disease HEMOGLOBIN J (AMIENS)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (AMIENS)
Reversed 1
HGVS NC_000011.9:g.5248198C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016397.3,


[PMID 2101004] Hb J-Amiens [beta 17(A14)Lys----Asn] found in a Japanese.