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rs34743106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34743106(C;C)
Make rs34743106(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position176789
GeneHBA1
is asnp
is mentioned by
dbSNPrs34743106
ebirs34743106
HLIrs34743106
Exacrs34743106
Varsomers34743106
Maprs34743106
PheGenIrs34743106
hapmaprs34743106
1000 genomesrs34743106
hgdprs34743106
ensemblrs34743106
gopubmedrs34743106
geneviewrs34743106
scholarrs34743106
googlers34743106
pharmgkbrs34743106
gwascentralrs34743106
openSNPrs34743106
23andMers34743106
23andMe allrs34743106
SNP Nexus

SNPshotrs34743106
SNPdbers34743106
MSV3drs34743106
GWAS Ctlgrs34743106
Max Magnitude0
OMIM141800
Desc
Variant0091
Relatedalso
ClinVar
Risk rs34743106(C;C)
Alt rs34743106(C;C)
Reference rs34743106(T;T)
Significance Other
Disease HEMOGLOBIN LUXEMBOURG
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN LUXEMBOURG
Reversed 0
HGVS NC_000016.9:g.226788T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017097.2,


[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].


[PMID 2599879] Hb Luxembourg [alpha 24(B5) Tyr----His]: a new unstable variant.