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rs33950778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs33950778(A;C)
Make rs33950778(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225647
GeneHBB
is asnp
is mentioned by
dbSNPrs33950778
ebirs33950778
HLIrs33950778
Exacrs33950778
Varsomers33950778
Maprs33950778
PheGenIrs33950778
hapmaprs33950778
1000 genomesrs33950778
hgdprs33950778
ensemblrs33950778
gopubmedrs33950778
geneviewrs33950778
scholarrs33950778
googlers33950778
pharmgkbrs33950778
gwascentralrs33950778
openSNPrs33950778
23andMers33950778
23andMe allrs33950778
SNP Nexus

SNPshotrs33950778
SNPdbers33950778
MSV3drs33950778
GWAS Ctlgrs33950778
Max Magnitude0
OMIM141900
Desc
Variant0258
Relatedalso
OMIM141900
Desc
Variant0435
Relatedalso
ClinVar
Risk rs33950778(C,G;C,G)
Alt rs33950778(C,G;C,G)
Reference rs33950778(A;A)
Significance Other
Disease HEMOGLOBIN SARREBOURG HEMOGLOBIN SHANGHAI
Variation info
Gene HBB
CLNDBN HEMOGLOBIN SARREBOURG HEMOGLOBIN SHANGHAI
Reversed 1
HGVS NC_000011.9:g.5246877T>C; NC_000011.9:g.5246877T>G
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016787.2, RCV000016592.2,


[PMID 3676109] A new unstable haemoglobin variant: Hb Shanghai [beta 131(H9)Gln----Pro] found in China.


[PMID 17486501] Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family.


[PMID 21077765] Hb Sarrebourg [beta131(H9)Gln-->Arg, CAG>CGG] in Turkey.