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rs34068598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34068598(C;C)
Make rs34068598(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position176999
GeneHBA1
is asnp
is mentioned by
dbSNPrs34068598
ebirs34068598
HLIrs34068598
Exacrs34068598
Varsomers34068598
Maprs34068598
PheGenIrs34068598
hapmaprs34068598
1000 genomesrs34068598
hgdprs34068598
ensemblrs34068598
gopubmedrs34068598
geneviewrs34068598
scholarrs34068598
googlers34068598
pharmgkbrs34068598
gwascentralrs34068598
openSNPrs34068598
23andMers34068598
23andMe allrs34068598
SNP Nexus

SNPshotrs34068598
SNPdbers34068598
MSV3drs34068598
GWAS Ctlgrs34068598
Max Magnitude0
OMIM141800
Desc
Variant0204
Relatedalso
ClinVar
Risk rs34068598(C;C)
Alt rs34068598(C;C)
Reference rs34068598(G;G)
Significance Other
Disease HEMOGLOBIN ROUBAIX
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN ROUBAIX
Reversed 0
HGVS NC_000016.9:g.226998G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017223.2,


[PMID 10569725] Hb Roubaix [alpha55(E4)Val-->Leu]: a new neutral hemoglobin variant involving the alpha1 gene.


[PMID 12403494] Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].