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rs35353749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35353749(A;C)
Make rs35353749(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226696
GeneHBB
is asnp
is mentioned by
dbSNPrs35353749
dbSNP (classic)rs35353749
ClinGenrs35353749
ebirs35353749
HLIrs35353749
Exacrs35353749
Gnomadrs35353749
Varsomers35353749
LitVarrs35353749
Maprs35353749
PheGenIrs35353749
Biobankrs35353749
1000 genomesrs35353749
hgdprs35353749
ensemblrs35353749
geneviewrs35353749
scholarrs35353749
googlers35353749
pharmgkbrs35353749
gwascentralrs35353749
openSNPrs35353749
23andMers35353749
SNPshotrs35353749
SNPdbers35353749
MSV3drs35353749
GWAS Ctlgrs35353749
Max Magnitude0
OMIM141900
Desc
Variant0125
Relatedalso


ClinVar
Risk rs35353749(C;C)
Alt rs35353749(C;C)
Reference Rs35353749(A;A)
Significance Other
Disease HEMOGLOBIN J (CAIRO)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (CAIRO)
Reversed 1
HGVS NC_000011.9:g.5247926T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016409.2,



[PMID 1247583] Hemoglobin J Cairo: beta 65 (E9) Lys leads to Gln, A new hemoglobin variant discovered in an Egyptian family.