rs34324664
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs34324664(C;C) |
Make rs34324664(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 176780 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34324664 |
dbSNP (classic) | rs34324664 |
ClinGen | rs34324664 |
ebi | rs34324664 |
HLI | rs34324664 |
Exac | rs34324664 |
Gnomad | rs34324664 |
Varsome | rs34324664 |
LitVar | rs34324664 |
Map | rs34324664 |
PheGenI | rs34324664 |
Biobank | rs34324664 |
1000 genomes | rs34324664 |
hgdp | rs34324664 |
ensembl | rs34324664 |
geneview | rs34324664 |
scholar | rs34324664 |
rs34324664 | |
pharmgkb | rs34324664 |
gwascentral | rs34324664 |
openSNP | rs34324664 |
23andMe | rs34324664 |
SNPshot | rs34324664 |
SNPdbe | rs34324664 |
MSV3d | rs34324664 |
GWAS Ctlg | rs34324664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34324664(C;C) |
Alt | rs34324664(C;C) |
Reference | Rs34324664(G;G) |
Significance | Other |
Disease | HEMOGLOBIN FONTAINEBLEAU |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN FONTAINEBLEAU |
Reversed | 0 |
HGVS | NC_000016.9:g.226779G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017020.2, |
[PMID 2599878] Hb Fontainebleau [alpha 21(B2)Ala----pro], a new silent mutant hemoglobin.