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rs33974325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33974325(A;C)
Make rs33974325(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226614
GeneHBB
is asnp
is mentioned by
dbSNPrs33974325
ebirs33974325
HLIrs33974325
Exacrs33974325
Varsomers33974325
Maprs33974325
PheGenIrs33974325
hapmaprs33974325
1000 genomesrs33974325
hgdprs33974325
ensemblrs33974325
gopubmedrs33974325
geneviewrs33974325
scholarrs33974325
googlers33974325
pharmgkbrs33974325
gwascentralrs33974325
openSNPrs33974325
23andMers33974325
23andMe allrs33974325
SNP Nexus

SNPshotrs33974325
SNPdbers33974325
MSV3drs33974325
GWAS Ctlgrs33974325
Max Magnitude0
OMIM141900
Desc
Variant0186
Relatedalso
OMIM141900
Desc
Variant0197
Relatedalso
OMIM141900
Desc
Variant0427
Relatedalso
ClinVar
Risk rs33974325(C,G;C,G)
Alt rs33974325(C,G;C,G)
Reference rs33974325(A;A)
Significance Other
Disease HEMOGLOBIN MOZHAISK HEMOGLOBIN NEWCASTLE HEMOGLOBIN DUINO
Variation info
Gene HBB
CLNDBN HEMOGLOBIN MOZHAISK HEMOGLOBIN NEWCASTLE HEMOGLOBIN DUINO
Reversed 1
HGVS NC_000011.9:g.5247844T>C; NC_000011.9:g.5247844T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016502.2, RCV000016518.2, RCV000016780.2,


[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.


[PMID 7096107] A new abnormal hemoglobin: Hb Mozhaisk beta 92(F8)His leads to Arg.


[PMID 1227988] Hb Newcastle: beta92 (F8) His replaced by Pro.