rs34769782
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34769782(C;C) |
Make rs34769782(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177114 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34769782 |
dbSNP (classic) | rs34769782 |
ClinGen | rs34769782 |
ebi | rs34769782 |
HLI | rs34769782 |
Exac | rs34769782 |
Gnomad | rs34769782 |
Varsome | rs34769782 |
LitVar | rs34769782 |
Map | rs34769782 |
PheGenI | rs34769782 |
Biobank | rs34769782 |
1000 genomes | rs34769782 |
hgdp | rs34769782 |
ensembl | rs34769782 |
geneview | rs34769782 |
scholar | rs34769782 |
rs34769782 | |
pharmgkb | rs34769782 |
gwascentral | rs34769782 |
openSNP | rs34769782 |
23andMe | rs34769782 |
SNPshot | rs34769782 |
SNPdbe | rs34769782 |
MSV3d | rs34769782 |
GWAS Ctlg | rs34769782 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34769782(C;C) rs34769782(G;G) |
Alt | rs34769782(C;C) rs34769782(G;G) |
Reference | Rs34769782(T;T) |
Significance | Other |
Disease | HEMOGLOBIN DIE |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN DIE |
Reversed | 0 |
HGVS | NC_000016.9:g.227113T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017229.2, |
[PMID 15008266] Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)].