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rs33936967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs33936967(G;G)
Make rs33936967(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226647
GeneHBB
is asnp
is mentioned by
dbSNPrs33936967
dbSNP (classic)rs33936967
ClinGenrs33936967
ebirs33936967
HLIrs33936967
Exacrs33936967
Gnomadrs33936967
Varsomers33936967
LitVarrs33936967
Maprs33936967
PheGenIrs33936967
Biobankrs33936967
1000 genomesrs33936967
hgdprs33936967
ensemblrs33936967
geneviewrs33936967
scholarrs33936967
googlers33936967
pharmgkbrs33936967
gwascentralrs33936967
openSNPrs33936967
23andMers33936967
SNPshotrs33936967
SNPdbers33936967
MSV3drs33936967
GWAS Ctlgrs33936967
Max Magnitude0
OMIM141900
Desc
Variant0017
Relatedalso
OMIM141900
Desc
Variant0482
Relatedalso
ClinVar
Risk rs33936967(A;A) rs33936967(G;G)
Alt rs33936967(A;A) rs33936967(G;G)
Reference Rs33936967(T;T)
Significance Other
Disease HEMOGLOBIN BAYLOR HEMOGLOBIN LA ROCHE-SUR-YON
Variation info
Gene HBB
CLNDBN HEMOGLOBIN BAYLOR HEMOGLOBIN LA ROCHE-SUR-YON
Reversed 1
HGVS NC_000011.9:g.5247877A>C; NC_000011.9:g.5247877A>T
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016259.3, RCV000016837.2,


[PMID 1540659] Structure of the EF corner favors deamidation of asparaginyl residues in hemoglobin: the example of Hb La Roche-sur-Yon [beta 81 (EF5) Leu----His].