Have questions? Visit https://www.reddit.com/r/SNPedia

rs41321345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;C) 3 Alpha-thalassemia allele carrier
Make rs41321345(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173599
GeneHBA2
is asnp
is mentioned by
dbSNPrs41321345
ebirs41321345
HLIrs41321345
Exacrs41321345
Varsomers41321345
Maprs41321345
PheGenIrs41321345
hapmaprs41321345
1000 genomesrs41321345
hgdprs41321345
ensemblrs41321345
gopubmedrs41321345
geneviewrs41321345
scholarrs41321345
googlers41321345
pharmgkbrs41321345
gwascentralrs41321345
openSNPrs41321345
23andMers41321345
23andMe allrs41321345
SNP Nexus

SNPshotrs41321345
SNPdbers41321345
MSV3drs41321345
GWAS Ctlgrs41321345
Max Magnitude3
OMIM141850
Desc
Variant0003
Relatedalso


ClinVar
Risk rs41321345(C;C)
Alt rs41321345(C;C)
Reference rs41321345(A;A)
Significance Other
Disease HEMOGLOBIN KOYA DORA
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN KOYA DORA
Reversed 0
HGVS NC_000016.9:g.223598A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016894.1,



[PMID 1155453OA-icon.png] Hemoglobin Koya Dora: high frequency of a chain termination mutant.


[PMID 1802886] Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants.


[PMID 8251382] An IVS-I-117 (G-->A) acceptor splice site mutation in the alpha 1-globin gene is a nondeletional alpha-thalassaemia-2 determinant in an Indian population.