rs34273731
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34273731(G;T) |
Make rs34273731(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177133 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34273731 |
dbSNP (classic) | rs34273731 |
ClinGen | rs34273731 |
ebi | rs34273731 |
HLI | rs34273731 |
Exac | rs34273731 |
Gnomad | rs34273731 |
Varsome | rs34273731 |
LitVar | rs34273731 |
Map | rs34273731 |
PheGenI | rs34273731 |
Biobank | rs34273731 |
1000 genomes | rs34273731 |
hgdp | rs34273731 |
ensembl | rs34273731 |
geneview | rs34273731 |
scholar | rs34273731 |
rs34273731 | |
pharmgkb | rs34273731 |
gwascentral | rs34273731 |
openSNP | rs34273731 |
23andMe | rs34273731 |
SNPshot | rs34273731 |
SNPdbe | rs34273731 |
MSV3d | rs34273731 |
GWAS Ctlg | rs34273731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34273731(T;T) |
Alt | rs34273731(T;T) |
Reference | Rs34273731(G;G) |
Significance | Other |
Disease | HEMOGLOBIN BEZIERS |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN BEZIERS |
Reversed | 0 |
HGVS | NC_000016.9:g.227132G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017230.2, |
[PMID 15008266] Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)].