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rs34160180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTT;GTT) 0 common in complete genomics
(TTG;TTG) 0 common in clinvar
Make rs34160180(-;-)
Make rs34160180(-;GTT)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226950
GeneHBB
is asnp
is mentioned by
dbSNPrs34160180
ebirs34160180
HLIrs34160180
Exacrs34160180
Varsomers34160180
Maprs34160180
PheGenIrs34160180
hapmaprs34160180
1000 genomesrs34160180
hgdprs34160180
ensemblrs34160180
gopubmedrs34160180
geneviewrs34160180
scholarrs34160180
googlers34160180
pharmgkbrs34160180
gwascentralrs34160180
openSNPrs34160180
23andMers34160180
23andMe allrs34160180
SNP Nexus

SNPshotrs34160180
SNPdbers34160180
MSV3drs34160180
GWAS Ctlgrs34160180
Max Magnitude0
OMIM141900
Desc
Variant0076
Relatedalso
ClinVar
Risk rs34160180(;)
Alt rs34160180(;)
Reference rs34160180(TTG;TTG)
Significance Pathogenic
Disease Hemoglobinopathy
Variation info
Gene HBB
CLNDBN Hemoglobinopathy
Reversed 1
HGVS NC_000011.9:g.5248180_5248182delAAC
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016337.3,


[PMID 5919752] Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue.