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rs35914488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35914488(C;T)
Make rs35914488(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226638
GeneHBB
is asnp
is mentioned by
dbSNPrs35914488
dbSNP (classic)rs35914488
ClinGenrs35914488
ebirs35914488
HLIrs35914488
Exacrs35914488
Gnomadrs35914488
Varsomers35914488
LitVarrs35914488
Maprs35914488
PheGenIrs35914488
Biobankrs35914488
1000 genomesrs35914488
hgdprs35914488
ensemblrs35914488
geneviewrs35914488
scholarrs35914488
googlers35914488
pharmgkbrs35914488
gwascentralrs35914488
openSNPrs35914488
23andMers35914488
SNPshotrs35914488
SNPdbers35914488
MSV3drs35914488
GWAS Ctlgrs35914488
Max Magnitude0
OMIM141900
Desc
Variant0150
Relatedalso


ClinVar
Risk rs35914488(A;A) rs35914488(T;T)
Alt rs35914488(A;A) rs35914488(T;T)
Reference Rs35914488(C;C)
Significance Other
Disease HEMOGLOBIN KOFU
Variation info
Gene HBB
CLNDBN HEMOGLOBIN KOFU
Reversed 1
HGVS NC_000011.9:g.5247868G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016442.2,



[PMID 3744871] A new electrophoretically-silent hemoglobin variant: hemoglobin Kofu or alpha 2 beta 2 84 (EF8) Thr----Ile.