rs41430445
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Alpha-thalassemia allele carrier |
(T;T) | 0 | common in complete genomics |
Make rs41430445(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173130 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41430445 |
dbSNP (classic) | rs41430445 |
ClinGen | rs41430445 |
ebi | rs41430445 |
HLI | rs41430445 |
Exac | rs41430445 |
Gnomad | rs41430445 |
Varsome | rs41430445 |
LitVar | rs41430445 |
Map | rs41430445 |
PheGenI | rs41430445 |
Biobank | rs41430445 |
1000 genomes | rs41430445 |
hgdp | rs41430445 |
ensembl | rs41430445 |
geneview | rs41430445 |
scholar | rs41430445 |
rs41430445 | |
pharmgkb | rs41430445 |
gwascentral | rs41430445 |
openSNP | rs41430445 |
23andMe | rs41430445 |
SNPshot | rs41430445 |
SNPdbe | rs41430445 |
MSV3d | rs41430445 |
GWAS Ctlg | rs41430445 |
Max Magnitude | 3 |
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 | RCV000016970.2, |
[PMID 12779273] A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser].