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rs281864819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Alpha-thalassemia allele carrier
Make rs281864819(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position172982
GeneHBA2
is asnp
is mentioned by
dbSNPrs281864819
dbSNP (classic)rs281864819
ClinGenrs281864819
ebirs281864819
HLIrs281864819
Exacrs281864819
Gnomadrs281864819
Varsomers281864819
LitVarrs281864819
Maprs281864819
PheGenIrs281864819
Biobankrs281864819
1000 genomesrs281864819
hgdprs281864819
ensemblrs281864819
geneviewrs281864819
scholarrs281864819
googlers281864819
pharmgkbrs281864819
gwascentralrs281864819
openSNPrs281864819
23andMers281864819
SNPshotrs281864819
SNPdbers281864819
MSV3drs281864819
GWAS Ctlgrs281864819
Max Magnitude3
ClinVar
Risk rs281864819(A;A) rs281864819(C;C) rs281864819(T;T)
Alt rs281864819(A;A) rs281864819(C;C) rs281864819(T;T)
Reference Rs281864819(G;G)
Significance Pathogenic
Disease Alpha Thalassemia
Variation info
Gene HBA2
CLNDBN alpha Thalassemia
Reversed 0
HGVS NC_000016.9:g.222981G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000016976.28,