rs41484451
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs41484451(C;C) |
Make rs41484451(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 173273 |
Gene | HBA2 |
is a | snp |
is | mentioned by |
dbSNP | rs41484451 |
dbSNP (classic) | rs41484451 |
ClinGen | rs41484451 |
ebi | rs41484451 |
HLI | rs41484451 |
Exac | rs41484451 |
Gnomad | rs41484451 |
Varsome | rs41484451 |
LitVar | rs41484451 |
Map | rs41484451 |
PheGenI | rs41484451 |
Biobank | rs41484451 |
1000 genomes | rs41484451 |
hgdp | rs41484451 |
ensembl | rs41484451 |
geneview | rs41484451 |
scholar | rs41484451 |
rs41484451 | |
pharmgkb | rs41484451 |
gwascentral | rs41484451 |
openSNP | rs41484451 |
23andMe | rs41484451 |
SNPshot | rs41484451 |
SNPdbe | rs41484451 |
MSV3d | rs41484451 |
GWAS Ctlg | rs41484451 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41484451(C;C) |
Alt | rs41484451(C;C) |
Reference | Rs41484451(T;T) |
Significance | Other |
Disease | HEMOGLOBIN PASSY |
Variation | info |
Gene | HBA2 |
CLNDBN | HEMOGLOBIN PASSY |
Reversed | 0 |
HGVS | NC_000016.9:g.223272T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016980.2, |
[PMID 15768558] Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].