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rs33940204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs33940204(G;G)
Make rs33940204(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226626
GeneHBB
is asnp
is mentioned by
dbSNPrs33940204
ebirs33940204
HLIrs33940204
Exacrs33940204
Varsomers33940204
Maprs33940204
PheGenIrs33940204
hapmaprs33940204
1000 genomesrs33940204
hgdprs33940204
ensemblrs33940204
gopubmedrs33940204
geneviewrs33940204
scholarrs33940204
googlers33940204
pharmgkbrs33940204
gwascentralrs33940204
openSNPrs33940204
23andMers33940204
23andMe allrs33940204
SNP Nexus

SNPshotrs33940204
SNPdbers33940204
MSV3drs33940204
GWAS Ctlgrs33940204
Max Magnitude0
OMIM141900
Desc
Variant0025
Relatedalso
OMIM141900
Desc
Variant0253
Relatedalso
ClinVar
Risk rs33940204(C,G;C,G)
Alt rs33940204(C,G;C,G)
Reference rs33940204(T;T)
Significance Other
Disease HEMOGLOBIN BORAS HEMOGLOBIN SANTA ANA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BORAS HEMOGLOBIN SANTA ANA
Reversed 1
HGVS NC_000011.9:g.5247856A>C; NC_000011.9:g.5247856A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016262.2, RCV000016586.2,


[PMID 3623976] Hb Boras or alpha 2 beta 2(88)(F4)Leu----Arg in a South African female.


[PMID 5789325] New unstable haemoglobin boras: beta 88 (F4) leucine-arginine.


[PMID 5522602] Unstable haemoglobin disease caused by Hb Santa Ana- 88 (F4) Leu leads to Pro.


[PMID 5713642OA-icon.png] Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-beta-88 (F4) leucine--proline.


[PMID 5780360] Three families with unstable hemoglobinopathies (Koln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia.


[PMID 7928381] Association of Hb Santa Ana [alpha 2 beta (2)88(F4)Leu- > Pro] and Hb Porto Alegre [alpha 2 beta (2)9(A6)Ser- > Cys] in a Brazilian female.