rs34635364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in complete genomics |
Make rs34635364(C;C) |
Make rs34635364(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 177392 |
Gene | HBA1 |
is a | snp |
is | mentioned by |
dbSNP | rs34635364 |
dbSNP (classic) | rs34635364 |
ClinGen | rs34635364 |
ebi | rs34635364 |
HLI | rs34635364 |
Exac | rs34635364 |
Gnomad | rs34635364 |
Varsome | rs34635364 |
LitVar | rs34635364 |
Map | rs34635364 |
PheGenI | rs34635364 |
Biobank | rs34635364 |
1000 genomes | rs34635364 |
hgdp | rs34635364 |
ensembl | rs34635364 |
geneview | rs34635364 |
scholar | rs34635364 |
rs34635364 | |
pharmgkb | rs34635364 |
gwascentral | rs34635364 |
openSNP | rs34635364 |
23andMe | rs34635364 |
SNPshot | rs34635364 |
SNPdbe | rs34635364 |
MSV3d | rs34635364 |
GWAS Ctlg | rs34635364 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34635364(C;C) rs34635364(G;G) |
Alt | rs34635364(C;C) rs34635364(G;G) |
Reference | Rs34635364(T;T) |
Significance | Other |
Disease | HEMOGLOBIN TOYAMA Heinz body anemia |
Variation | info |
Gene | HBA1 |
CLNDBN | HEMOGLOBIN TOYAMA Heinz body anemia |
Reversed | 0 |
HGVS | NC_000016.9:g.227391T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017171.2, RCV000017172.27, |
[PMID 2833478] Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids.