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rs33999427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
({{{allele1}}};{{{allele2}}}) 0 common in clinvar
(-;-) 0 common in complete genomics
(T;T) 0 common in clinvar
Make rs33999427(-;AC)
Make rs33999427(AC;AC)
ReferenceGRCh38 38.1/141
Chromosome11
Position5225600
GeneHBB
is asnp
is mentioned by
dbSNPrs33999427
ebirs33999427
HLIrs33999427
Exacrs33999427
Varsomers33999427
Maprs33999427
PheGenIrs33999427
hapmaprs33999427
1000 genomesrs33999427
hgdprs33999427
ensemblrs33999427
gopubmedrs33999427
geneviewrs33999427
scholarrs33999427
googlers33999427
pharmgkbrs33999427
gwascentralrs33999427
openSNPrs33999427
23andMers33999427
23andMe allrs33999427
SNP Nexus

SNPshotrs33999427
SNPdbers33999427
MSV3drs33999427
GWAS Ctlgrs33999427
Max Magnitude0
OMIM141900
Desc
Variant0279
Relatedalso
ClinVar
Risk rs33999427(TAT,ACT;TAT,ACT)
Alt rs33999427(TAT,ACT;TAT,ACT)
Reference rs33999427(T;T)
Significance Untested
Disease
Variation info
Gene HBB
CLNDBN
Reversed 1
HGVS NC_000011.9:g.5246830_5246831insGT; NC_000011.9:g.5246830_5246831insTA
CLNSRC
CLNACC


[PMID 88] The oxygen affinity of haemoglobin Tak, a variant with an elongated beta chain.