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rs41412046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;T) 3 Alpha-thalassemia allele carrier
Make rs41412046(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position173600
GeneHBA2
is asnp
is mentioned by
dbSNPrs41412046
ebirs41412046
HLIrs41412046
Exacrs41412046
Varsomers41412046
Maprs41412046
PheGenIrs41412046
hapmaprs41412046
1000 genomesrs41412046
hgdprs41412046
ensemblrs41412046
gopubmedrs41412046
geneviewrs41412046
scholarrs41412046
googlers41412046
pharmgkbrs41412046
gwascentralrs41412046
openSNPrs41412046
23andMers41412046
23andMe allrs41412046
SNP Nexus

SNPshotrs41412046
SNPdbers41412046
MSV3drs41412046
GWAS Ctlgrs41412046
Max Magnitude3
OMIM141850
Desc
Variant0027
Relatedalso


ClinVar
Risk rs41412046(T;T)
Alt rs41412046(T;T)
Reference rs41412046(A;A)
Significance Pathogenic
Disease Hemoglobin H disease
Variation info
Gene HBA2
CLNDBN Hemoglobin H disease, nondeletional
Reversed 0
HGVS NC_000016.9:g.223599A>T
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016938.4,



[PMID 7502632] Identification of several alpha-globin gene variations in a small Laotian family.


[PMID 8193381] Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease.


[PMID 11836160] Clinical phenotypes and molecular characterization of Hb H-Pakse disease.


[PMID 12403487] Hb Pakse [(alpha2) codon 142 (TAA-->TAT or Term-->Tyr)J in Thai patients with EAbart's disease and Hb H Disease.