rs34282684
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs34282684(-;-) |
Make rs34282684(-;GT) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 5226689 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34282684 |
dbSNP (classic) | rs34282684 |
ClinGen | rs34282684 |
ebi | rs34282684 |
HLI | rs34282684 |
Exac | rs34282684 |
Gnomad | rs34282684 |
Varsome | rs34282684 |
LitVar | rs34282684 |
Map | rs34282684 |
PheGenI | rs34282684 |
Biobank | rs34282684 |
1000 genomes | rs34282684 |
hgdp | rs34282684 |
ensembl | rs34282684 |
geneview | rs34282684 |
scholar | rs34282684 |
rs34282684 | |
pharmgkb | rs34282684 |
gwascentral | rs34282684 |
openSNP | rs34282684 |
23andMe | rs34282684 |
SNPshot | rs34282684 |
SNPdbe | rs34282684 |
MSV3d | rs34282684 |
GWAS Ctlg | rs34282684 |
Merged from | Rs193922554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs34282684(TG;TG) rs34282684(-;-) |
Alt | Rs34282684(TG;TG) rs34282684(-;-) |
Reference | Rs34282684(GT;GT) |
Significance | Probable-Pathogenic |
Disease | Beta thalassemia major |
Variation | info |
Gene | HBB |
CLNDBN | Beta thalassemia major |
Reversed | 1 |
HGVS | NC_000011.9:g.5247918_5247919delCA |
CLNSRC | |
CLNACC | RCV000029968.1, |