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rs35002698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35002698(C;C)
Make rs35002698(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226619
GeneHBB
is asnp
is mentioned by
dbSNPrs35002698
dbSNP (classic)rs35002698
ClinGenrs35002698
ebirs35002698
HLIrs35002698
Exacrs35002698
Gnomadrs35002698
Varsomers35002698
LitVarrs35002698
Maprs35002698
PheGenIrs35002698
Biobankrs35002698
1000 genomesrs35002698
hgdprs35002698
ensemblrs35002698
geneviewrs35002698
scholarrs35002698
googlers35002698
pharmgkbrs35002698
gwascentralrs35002698
openSNPrs35002698
23andMers35002698
SNPshotrs35002698
SNPdbers35002698
MSV3drs35002698
GWAS Ctlgrs35002698
Max Magnitude0
OMIM141900
Desc
Variant0221
Relatedalso
ClinVar
Risk rs35002698(C;C) rs35002698(T;T)
Alt rs35002698(C;C) rs35002698(T;T)
Reference Rs35002698(G;G)
Significance Other
Disease HEMOGLOBIN PIERRE-BENITE
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PIERRE-BENITE
Reversed 1
HGVS NC_000011.9:g.5247849C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016551.2,


[PMID 3384709] Hemoglobin Pierre-Benite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family.