rs41529844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 3 | Alpha-thalassemia allele carrier |
(G;G) | 0 | common in complete genomics |
Make rs41529844(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173562 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41529844 |
dbSNP (classic) | rs41529844 |
ClinGen | rs41529844 |
ebi | rs41529844 |
HLI | rs41529844 |
Exac | rs41529844 |
Gnomad | rs41529844 |
Varsome | rs41529844 |
LitVar | rs41529844 |
Map | rs41529844 |
PheGenI | rs41529844 |
Biobank | rs41529844 |
1000 genomes | rs41529844 |
hgdp | rs41529844 |
ensembl | rs41529844 |
geneview | rs41529844 |
scholar | rs41529844 |
rs41529844 | |
pharmgkb | rs41529844 |
gwascentral | rs41529844 |
openSNP | rs41529844 |
23andMe | rs41529844 |
SNPshot | rs41529844 |
SNPdbe | rs41529844 |
MSV3d | rs41529844 |
GWAS Ctlg | rs41529844 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs41529844(C;C) |
Alt | rs41529844(C;C) |
Reference | Rs41529844(G;G) |
Significance | Other |
Disease | HEMOGLOBIN SUN PRAIRIE |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN SUN PRAIRIE |
Reversed | 0 |
HGVS | NC_000016.9:g.223561G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016926.2, |
[PMID 2079430] Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities.
[PMID 2079431] Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2; second observation in an Indian adult.
[PMID 8811313] Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies.