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rs33911434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33911434(C;C)
Make rs33911434(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226578
GeneHBB
is asnp
is mentioned by
dbSNPrs33911434
dbSNP (classic)rs33911434
ClinGenrs33911434
ebirs33911434
HLIrs33911434
Exacrs33911434
Gnomadrs33911434
Varsomers33911434
LitVarrs33911434
Maprs33911434
PheGenIrs33911434
Biobankrs33911434
1000 genomesrs33911434
hgdprs33911434
ensemblrs33911434
geneviewrs33911434
scholarrs33911434
googlers33911434
pharmgkbrs33911434
gwascentralrs33911434
openSNPrs33911434
23andMers33911434
SNPshotrs33911434
SNPdbers33911434
MSV3drs33911434
GWAS Ctlgrs33911434
Max Magnitude0
OMIM141900
Desc
Variant0261
Relatedalso
ClinVar
Risk rs33911434(A;A) rs33911434(C;C) rs33911434(T;T)
Alt rs33911434(A;A) rs33911434(C;C) rs33911434(T;T)
Reference Rs33911434(G;G)
Significance Other
Disease HEMOGLOBIN SHERWOOD FOREST
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SHERWOOD FOREST
Reversed 1
HGVS NC_000011.9:g.5247808C>G
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016597.2,


[PMID 590504] Haemoglobin Sherwood Forest beta104 (G6) Arg replaced by Thr.


[PMID 8829478] Structural determination of a new electrophoreticaly silent variant: hemoglobin Alzette, beta 104(G6)Arg --> Lys.