rs35225141
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common in complete genomics |
(I;I) | 0 |
Make rs35225141(-;G) |
Make rs35225141(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225720 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35225141 |
dbSNP (classic) | rs35225141 |
ClinGen | rs35225141 |
ebi | rs35225141 |
HLI | rs35225141 |
Exac | rs35225141 |
Gnomad | rs35225141 |
Varsome | rs35225141 |
LitVar | rs35225141 |
Map | rs35225141 |
PheGenI | rs35225141 |
Biobank | rs35225141 |
1000 genomes | rs35225141 |
hgdp | rs35225141 |
ensembl | rs35225141 |
geneview | rs35225141 |
scholar | rs35225141 |
rs35225141 | |
pharmgkb | rs35225141 |
gwascentral | rs35225141 |
openSNP | rs35225141 |
23andMe | rs35225141 |
SNPshot | rs35225141 |
SNPdbe | rs35225141 |
MSV3d | rs35225141 |
GWAS Ctlg | rs35225141 |
Merged from | Rs606231216 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35225141(G;G) |
Alt | rs35225141(G;G) |
Reference | Rs35225141(-;-) |
Significance | Pathogenic |
Disease | beta^0^ Thalassemia |
Variation | info |
Gene | HBB |
CLNDBN | beta^0^ Thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5246951dupC |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016668.26, |
[PMID 3683554] Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.