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rs34635364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs34635364(C;C)
Make rs34635364(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177392
GeneHBA1
is asnp
is mentioned by
dbSNPrs34635364
dbSNP (classic)rs34635364
ClinGenrs34635364
ebirs34635364
HLIrs34635364
Exacrs34635364
Gnomadrs34635364
Varsomers34635364
LitVarrs34635364
Maprs34635364
PheGenIrs34635364
Biobankrs34635364
1000 genomesrs34635364
hgdprs34635364
ensemblrs34635364
geneviewrs34635364
scholarrs34635364
googlers34635364
pharmgkbrs34635364
gwascentralrs34635364
openSNPrs34635364
23andMers34635364
SNPshotrs34635364
SNPdbers34635364
MSV3drs34635364
GWAS Ctlgrs34635364
Max Magnitude0
OMIM141800
Desc
Variant0011
Relatedalso
OMIM141800
Desc
Variant0152
Relatedalso
ClinVar
Risk rs34635364(C;C) rs34635364(G;G)
Alt rs34635364(C;C) rs34635364(G;G)
Reference Rs34635364(T;T)
Significance Other
Disease HEMOGLOBIN TOYAMA Heinz body anemia
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN TOYAMA Heinz body anemia
Reversed 0
HGVS NC_000016.9:g.227391T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017171.2, RCV000017172.27,


[PMID 2833478] Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids.