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rs33958358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33958358(G;T)
Make rs33958358(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5227018
GeneHBB
is asnp
is mentioned by
dbSNPrs33958358
ebirs33958358
HLIrs33958358
Exacrs33958358
Varsomers33958358
Maprs33958358
PheGenIrs33958358
hapmaprs33958358
1000 genomesrs33958358
hgdprs33958358
ensemblrs33958358
gopubmedrs33958358
geneviewrs33958358
scholarrs33958358
googlers33958358
pharmgkbrs33958358
gwascentralrs33958358
openSNPrs33958358
23andMers33958358
23andMe allrs33958358
SNP Nexus

SNPshotrs33958358
SNPdbers33958358
MSV3drs33958358
GWAS Ctlgrs33958358
Max Magnitude0
OMIM141900
Desc
Variant0266
Relatedalso
OMIM141900
Desc
Variant0471
Relatedalso
ClinVar
Risk rs33958358(A,T;A,T)
Alt rs33958358(A,T;A,T)
Reference rs33958358(G;G)
Significance Other
Disease Hb niigata HEMOGLOBIN SOUTH FLORIDA
Variation info
Gene HBB
CLNDBN Hb niigata HEMOGLOBIN SOUTH FLORIDA
Reversed 1
HGVS NC_000011.9:g.5248248C>A; NC_000011.9:g.5248248C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016824.24, RCV000016609.2,


[PMID 9101286] Hb Niigata [beta 1 (NA1) Val-->Leu]: the fifth variant with retention of the initiator methionine and partial acetylation.


[PMID 3866233OA-icon.png] Amino-terminal processing of proteins: hemoglobin South Florida, a variant with retention of initiator methionine and N alpha-acetylation.