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rs33987053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 3 Alpha-thalassemia allele carrier
Make rs33987053(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173520
GeneHBA1
is asnp
is mentioned by
dbSNPrs33987053
ebirs33987053
HLIrs33987053
Exacrs33987053
Varsomers33987053
Maprs33987053
PheGenIrs33987053
hapmaprs33987053
1000 genomesrs33987053
hgdprs33987053
ensemblrs33987053
gopubmedrs33987053
geneviewrs33987053
scholarrs33987053
googlers33987053
pharmgkbrs33987053
gwascentralrs33987053
openSNPrs33987053
23andMers33987053
23andMe allrs33987053
SNP Nexus

SNPshotrs33987053
SNPdbers33987053
MSV3drs33987053
GWAS Ctlgrs33987053
Max Magnitude3
OMIM141800
Desc
Variant0110
Relatedalso
OMIM141800
Desc
Variant0113
Relatedalso
OMIM141850
Desc
Variant0021
Relatedalso
ClinVar
Risk rs33987053(A,C,T;A,C,T)
Alt rs33987053(A,C,T;A,C,T)
Reference rs33987053(G;G)
Significance Pathogenic
Disease alpha Thalassemia
Variation info
Gene HBA2
CLNDBN alpha Thalassemia
Reversed 0
HGVS NC_000016.9:g.223519G>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016930.26,


[PMID 6129203] Hemoglobin Oleander [alpha 116(GH4)Glu replaced by Gln beta 2]: structural and functional characterization.


[PMID 3597771OA-icon.png] Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).