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rs34586189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs34586189(A;A)
Make rs34586189(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position177071
GeneHBA1
is asnp
is mentioned by
dbSNPrs34586189
ebirs34586189
HLIrs34586189
Exacrs34586189
Varsomers34586189
Maprs34586189
PheGenIrs34586189
hapmaprs34586189
1000 genomesrs34586189
hgdprs34586189
ensemblrs34586189
gopubmedrs34586189
geneviewrs34586189
scholarrs34586189
googlers34586189
pharmgkbrs34586189
gwascentralrs34586189
openSNPrs34586189
23andMers34586189
23andMe allrs34586189
SNP Nexus

SNPshotrs34586189
SNPdbers34586189
MSV3drs34586189
GWAS Ctlgrs34586189
Max Magnitude0
OMIM141800
Desc
Variant0194
Relatedalso
ClinVar
Risk rs34586189(A;A)
Alt rs34586189(A;A)
Reference rs34586189(G;G)
Significance Other
Disease HEMOGLOBIN MANTES-LA-JOLIE
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN MANTES-LA-JOLIE
Reversed 0
HGVS NC_000016.9:g.227070G>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017213.2,


[PMID 8537232] Three new neutral alpha chain variants: Hb Bois Guillaume [alpha 65(E14(Ala-->Val], Hb Mantes-la-Jolie [alpha 79(EF8)Ala-Thr], and Hb Mosella [alpha 111(G18)Ala-->Thr].