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rs35059618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 3 Alpha-thalassemia allele carrier
(T;T) 0 common in complete genomics


Make rs35059618(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position177295
GeneHBA1
is asnp
is mentioned by
dbSNPrs35059618
dbSNP (classic)rs35059618
ClinGenrs35059618
ebirs35059618
HLIrs35059618
Exacrs35059618
Gnomadrs35059618
Varsomers35059618
LitVarrs35059618
Maprs35059618
PheGenIrs35059618
Biobankrs35059618
1000 genomesrs35059618
hgdprs35059618
ensemblrs35059618
geneviewrs35059618
scholarrs35059618
googlers35059618
pharmgkbrs35059618
gwascentralrs35059618
openSNPrs35059618
23andMers35059618
SNPshotrs35059618
SNPdbers35059618
MSV3drs35059618
GWAS Ctlgrs35059618
Max Magnitude3
OMIM141800
Desc
Variant0217
Relatedalso


ClinVar
Risk rs35059618(A;A)
Alt rs35059618(A;A)
Reference Rs35059618(T;T)
Significance Other
Disease HEMOGLOBIN OEGSTGEEST
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN OEGSTGEEST
Reversed 0
HGVS NC_000016.9:g.227294T>A
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000017236.2,



[PMID 16114179] Hb Oegstgeest [alpha104(G11)Cys-->Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype.