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rs33957964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33957964(C;C)
Make rs33957964(C;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position5225708
GeneHBB
is asnp
is mentioned by
dbSNPrs33957964
ebirs33957964
HLIrs33957964
Exacrs33957964
Varsomers33957964
Maprs33957964
PheGenIrs33957964
hapmaprs33957964
1000 genomesrs33957964
hgdprs33957964
ensemblrs33957964
gopubmedrs33957964
geneviewrs33957964
scholarrs33957964
googlers33957964
pharmgkbrs33957964
gwascentralrs33957964
openSNPrs33957964
23andMers33957964
23andMe allrs33957964
SNP Nexus

SNPshotrs33957964
SNPdbers33957964
MSV3drs33957964
GWAS Ctlgrs33957964
Max Magnitude0
OMIM141900
Desc
Variant0219
Relatedalso


ClinVar
Risk rs33957964(C,T;C,T)
Alt rs33957964(C,T;C,T)
Reference rs33957964(G;G)
Significance Other
Disease HEMOGLOBIN PETERBOROUGH HEMOGLOBIN FANNIN-LUBBOCK
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PETERBOROUGH HEMOGLOBIN FANNIN-LUBBOCK
Reversed 1
HGVS NC_000011.9:g.5246938C>A; NC_000011.9:g.5246938C>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016549.2, RCV000016336.2,



[PMID 5057941] An unstable haemoglobin with reduced oxygen affinity: haemoglobin Peterborough, 3 (GI3) Valine lead to Phenylalanine, its interaction with normal haemoglobin and with haemoglobin Lepore.


[PMID 9494045] Hb Peterborough [beta 111(G13)Val-->Phe] in Japan; rapid identification by ESI/MS using proteolytic digests of oxidized globin.