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

rs41430445

From SNPedia

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


Make rs41430445(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173130
GeneHBA2
is asnp
is mentioned by
dbSNPrs41430445
ebirs41430445
HLIrs41430445
Exacrs41430445
Varsomers41430445
Maprs41430445
PheGenIrs41430445
hapmaprs41430445
1000 genomesrs41430445
hgdprs41430445
ensemblrs41430445
gopubmedrs41430445
geneviewrs41430445
scholarrs41430445
googlers41430445
pharmgkbrs41430445
gwascentralrs41430445
openSNPrs41430445
23andMers41430445
23andMe allrs41430445
SNP Nexus

SNPshotrs41430445
SNPdbers41430445
MSV3drs41430445
GWAS Ctlgrs41430445
Max Magnitude3
OMIM141850
Desc
Variant0058
Relatedalso


ClinVar
Risk rs41430445(C;C)
Alt rs41430445(C;C)
Reference rs41430445(T;T)
Significance Other
Disease HEMOGLOBIN CHARTRES
Variation info
Gene HBA2
CLNDBN HEMOGLOBIN CHARTRES
Reversed 0
HGVS NC_000016.9:g.223129T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016970.1,



[PMID 12779273] A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser].