Have questions? Visit https://www.reddit.com/r/SNPedia

rs34489183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs34489183(C;G)
Make rs34489183(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5234151
GeneHBD
is asnp
is mentioned by
dbSNPrs34489183
dbSNP (classic)rs34489183
ClinGenrs34489183
ebirs34489183
HLIrs34489183
Exacrs34489183
Gnomadrs34489183
Varsomers34489183
LitVarrs34489183
Maprs34489183
PheGenIrs34489183
Biobankrs34489183
1000 genomesrs34489183
hgdprs34489183
ensemblrs34489183
geneviewrs34489183
scholarrs34489183
googlers34489183
pharmgkbrs34489183
gwascentralrs34489183
openSNPrs34489183
23andMers34489183
SNPshotrs34489183
SNPdbers34489183
MSV3drs34489183
GWAS Ctlgrs34489183
Max Magnitude0
OMIM142000
Desc
Variant0002
Relatedalso
ClinVar
Risk rs34489183(G;G)
Alt rs34489183(G;G)
Reference Rs34489183(C;C)
Significance Other
Disease HEMOGLOBIN A(2) ADRIA
Variation info
Gene HBD
CLNDBN HEMOGLOBIN A(2) ADRIA
Reversed 1
HGVS NC_000011.9:g.5255381G>C
CLNSRC HBVAR OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000016188.1,


[PMID 640854] Hb A2-Adria (delta 51 Pro yield Arg (D2)): a new delta-chain variant found in association with beta-thalassemia.