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rs33985510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33985510(C;C)
Make rs33985510(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226596
GeneHBB
is asnp
is mentioned by
dbSNPrs33985510
ebirs33985510
HLIrs33985510
Exacrs33985510
Varsomers33985510
Maprs33985510
PheGenIrs33985510
hapmaprs33985510
1000 genomesrs33985510
hgdprs33985510
ensemblrs33985510
gopubmedrs33985510
geneviewrs33985510
scholarrs33985510
googlers33985510
pharmgkbrs33985510
gwascentralrs33985510
openSNPrs33985510
23andMers33985510
23andMe allrs33985510
SNP Nexus

SNPshotrs33985510
SNPdbers33985510
MSV3drs33985510
GWAS Ctlgrs33985510
Max Magnitude0
OMIM141900
Desc
Variant0068
Relatedalso
OMIM141900
Desc
Variant0201
Relatedalso
ClinVar
Risk rs33985510(A,C,G;A,C,G)
Alt rs33985510(A,C,G;A,C,G)
Reference rs33985510(T;T)
Significance Other
Disease HEMOGLOBIN NOTTINGHAM HEMOGLOBIN DJELFA
Variation info
Gene HBB
CLNDBN HEMOGLOBIN NOTTINGHAM HEMOGLOBIN DJELFA
Reversed 1
HGVS NC_000011.9:g.5247826A>C; NC_000011.9:g.5247826A>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016523.2, RCV000016326.2,


[PMID 701088] Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies.


[PMID 1634365] Hb Nottingham or alpha 2 beta 2(98)(FG5)Val----Gly observed as a de novo mutation in a Canadian child.


[PMID 13850] Hemoglobin Djelfa beta98 (FG 5) Val leads to Ala: isolation and functional properties of the heme saturated form.


[PMID 1225587] A new unstable hemoglobin mutated in beta 98 (FG 5) Val leads to Ala: hb Djelfa.


[PMID 2737917] Two rare unstable beta chain variants, Hb Mozhaisk or alpha 2 beta 292(F8)His----Arg and Hb Djelfa or alpha 2 beta 298(Fg5)Val----Ala, each being observed for the second time.