rs35303218
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35303218(A;A) |
Make rs35303218(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226752 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35303218 |
dbSNP (classic) | rs35303218 |
ClinGen | rs35303218 |
ebi | rs35303218 |
HLI | rs35303218 |
Exac | rs35303218 |
Gnomad | rs35303218 |
Varsome | rs35303218 |
LitVar | rs35303218 |
Map | rs35303218 |
PheGenI | rs35303218 |
Biobank | rs35303218 |
1000 genomes | rs35303218 |
hgdp | rs35303218 |
ensembl | rs35303218 |
geneview | rs35303218 |
scholar | rs35303218 |
rs35303218 | |
pharmgkb | rs35303218 |
gwascentral | rs35303218 |
openSNP | rs35303218 |
23andMe | rs35303218 |
SNPshot | rs35303218 |
SNPdbe | rs35303218 |
MSV3d | rs35303218 |
GWAS Ctlg | rs35303218 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35303218(A;A) |
Alt | rs35303218(A;A) |
Reference | Rs35303218(G;G) |
Significance | Other |
Disease | HEMOGLOBIN K (IBADAN) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN K (IBADAN) |
Reversed | 1 |
HGVS | NC_000011.9:g.5247982C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016430.2, |
[PMID 1983219] Hb K-Ibadan [beta 46(CD5)Gly----Glu] in an Italian family.
[PMID 8226093] Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis.