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rs35140348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs35140348(A;A)
Make rs35140348(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226987
GeneHBB
is asnp
is mentioned by
dbSNPrs35140348
dbSNP (classic)rs35140348
ClinGenrs35140348
ebirs35140348
HLIrs35140348
Exacrs35140348
Gnomadrs35140348
Varsomers35140348
LitVarrs35140348
Maprs35140348
PheGenIrs35140348
Biobankrs35140348
1000 genomesrs35140348
hgdprs35140348
ensemblrs35140348
geneviewrs35140348
scholarrs35140348
googlers35140348
pharmgkbrs35140348
gwascentralrs35140348
openSNPrs35140348
23andMers35140348
SNPshotrs35140348
SNPdbers35140348
MSV3drs35140348
GWAS Ctlgrs35140348
Max Magnitude0
OMIM141900
Desc
Variant0299
Relatedalso
ClinVar
Risk rs35140348(A;A)
Alt rs35140348(A;A)
Reference Rs35140348(T;T)
Significance Other
Disease HEMOGLOBIN WINDSOR
Variation info
Gene HBB
CLNDBN HEMOGLOBIN WINDSOR
Reversed 1
HGVS NC_000011.9:g.5248217A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016642.2,


[PMID 2599880] Hemoglobin Windsor or beta 11 (A8)Val----Asp: a new unstable beta-chain hemoglobin variant producing a hemolytic anemia.