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rs35906307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35906307(C;T)
Make rs35906307(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227015
GeneHBB
is asnp
is mentioned by
dbSNPrs35906307
dbSNP (classic)rs35906307
ClinGenrs35906307
ebirs35906307
HLIrs35906307
Exacrs35906307
Gnomadrs35906307
Varsomers35906307
LitVarrs35906307
Maprs35906307
PheGenIrs35906307
Biobankrs35906307
1000 genomesrs35906307
hgdprs35906307
ensemblrs35906307
geneviewrs35906307
scholarrs35906307
googlers35906307
pharmgkbrs35906307
gwascentralrs35906307
openSNPrs35906307
23andMers35906307
SNPshotrs35906307
SNPdbers35906307
MSV3drs35906307
GWAS Ctlgrs35906307
Max Magnitude0
OMIM141900
Desc
Variant0077
Relatedalso


ClinVar
Risk rs35906307(T;T)
Alt rs35906307(T;T)
Reference Rs35906307(C;C)
Significance Other
Disease HEMOGLOBIN FUKUOKA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN FUKUOKA
Reversed 1
HGVS NC_000011.9:g.5248245G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016339.3,



[PMID 2272842] Hb Fukuoka [beta 2(NA2)His----Tyr]: a new mutation at the 2,3-diphosphoglycerate binding site.