rs41323248
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Alpha-thalassemia allele carrier |
(T;T) | 0 | common in complete genomics |
Make rs41323248(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173229 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41323248 |
dbSNP (classic) | rs41323248 |
ClinGen | rs41323248 |
ebi | rs41323248 |
HLI | rs41323248 |
Exac | rs41323248 |
Gnomad | rs41323248 |
Varsome | rs41323248 |
LitVar | rs41323248 |
Map | rs41323248 |
PheGenI | rs41323248 |
Biobank | rs41323248 |
1000 genomes | rs41323248 |
hgdp | rs41323248 |
ensembl | rs41323248 |
geneview | rs41323248 |
scholar | rs41323248 |
rs41323248 | |
pharmgkb | rs41323248 |
gwascentral | rs41323248 |
openSNP | rs41323248 |
23andMe | rs41323248 |
SNPshot | rs41323248 |
SNPdbe | rs41323248 |
MSV3d | rs41323248 |
GWAS Ctlg | rs41323248 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs41323248(C;C) |
Alt | rs41323248(C;C) |
Reference | Rs41323248(T;T) |
Significance | Other |
Disease | HEMOGLOBIN DARTMOUTH |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN DARTMOUTH |
Reversed | 0 |
HGVS | NC_000016.9:g.223228T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016955.2, |
[PMID 11791870] Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.