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rs35474880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs35474880(A;A)
Make rs35474880(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226945
GeneHBB
is asnp
is mentioned by
dbSNPrs35474880
dbSNP (classic)rs35474880
ClinGenrs35474880
ebirs35474880
HLIrs35474880
Exacrs35474880
Gnomadrs35474880
Varsomers35474880
LitVarrs35474880
Maprs35474880
PheGenIrs35474880
Biobankrs35474880
1000 genomesrs35474880
hgdprs35474880
ensemblrs35474880
geneviewrs35474880
scholarrs35474880
googlers35474880
pharmgkbrs35474880
gwascentralrs35474880
openSNPrs35474880
23andMers35474880
SNPshotrs35474880
SNPdbers35474880
MSV3drs35474880
GWAS Ctlgrs35474880
Max Magnitude0
OMIM141900
Desc
Variant0122
Relatedalso


ClinVar
Risk rs35474880(A;A)
Alt rs35474880(A;A)
Reference Rs35474880(G;G)
Significance Other
Disease HEMOGLOBIN J (AUCKLAND)
Variation info
Gene HBB
CLNDBN HEMOGLOBIN J (AUCKLAND)
Reversed 1
HGVS NC_000011.9:g.5248175C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016399.2,



[PMID 3654265] A new unstable and low oxygen affinity hemoglobin variant: Hb J-Auckland [beta 25(B7)Gly----Asp].