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rs33922018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs33922018(A;A)
Make rs33922018(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226698
GeneHBB
is asnp
is mentioned by
dbSNPrs33922018
ebirs33922018
HLIrs33922018
Exacrs33922018
Varsomers33922018
Maprs33922018
PheGenIrs33922018
hapmaprs33922018
1000 genomesrs33922018
hgdprs33922018
ensemblrs33922018
gopubmedrs33922018
geneviewrs33922018
scholarrs33922018
googlers33922018
pharmgkbrs33922018
gwascentralrs33922018
openSNPrs33922018
23andMers33922018
23andMe allrs33922018
SNP Nexus

SNPshotrs33922018
SNPdbers33922018
MSV3drs33922018
GWAS Ctlgrs33922018
Max Magnitude0
OMIM141900
Desc
Variant0126
Relatedalso
OMIM141900
Desc
Variant0512
Relatedalso
ClinVar
Risk rs33922018(A,C;A,C)
Alt rs33922018(A,C;A,C)
Reference rs33922018(G;G)
Significance Other
Disease HEMOGLOBIN AUBAGNE HEMOGLOBIN J (CALABRIA) HEMOGLOBIN J (COSENZA) HEMOGLOBIN J (BARI)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN AUBAGNE HEMOGLOBIN J (CALABRIA) HEMOGLOBIN J (COSENZA) HEMOGLOBIN J (BARI)
Reversed 1
HGVS NC_000011.9:g.5247928C>G; NC_000011.9:g.5247928C>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016866.2, RCV000016410.3, RCV000016411.3, RCV000016412.3,


[PMID 884140] Structural and functional studies of hemoglobin J Cala-bria: beta64 (E8) Gly leads to Asp.


[PMID 12144059] Hb aubagne [beta64(E8)Gly-Ala]: a new unstable beta chain variant found in a French family.