rs63750915
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(D;D) | 0 | |
(TATTTTCCCACCCTTAG;TATTTTCCCACCCTTAG) | 0 | common in clinvar |
Make rs63750915(-;-) |
Make rs63750915(-;TATTTTCCCACCCTTAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226800 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs63750915 |
dbSNP (classic) | rs63750915 |
ClinGen | rs63750915 |
ebi | rs63750915 |
HLI | rs63750915 |
Exac | rs63750915 |
Gnomad | rs63750915 |
Varsome | rs63750915 |
LitVar | rs63750915 |
Map | rs63750915 |
PheGenI | rs63750915 |
Biobank | rs63750915 |
1000 genomes | rs63750915 |
hgdp | rs63750915 |
ensembl | rs63750915 |
geneview | rs63750915 |
scholar | rs63750915 |
rs63750915 | |
pharmgkb | rs63750915 |
gwascentral | rs63750915 |
openSNP | rs63750915 |
23andMe | rs63750915 |
SNPshot | rs63750915 |
SNPdbe | rs63750915 |
MSV3d | rs63750915 |
GWAS Ctlg | rs63750915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs63750915(TATTTTCCCACCCTTAG;TATTTTCCCACCCTTAG) |
Significance | Pathogenic |
Disease | |
Variation | info |
Gene | HBB |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000011.9:g.5248030_5248046delCTAAGGGTGGGAAAATA |
CLNSRC | |
CLNACC |
[PMID 3048433] Molecular basis and prenatal diagnosis of beta-thalassemia.