rs35017910
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs35017910(C;C) |
Make rs35017910(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225720 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35017910 |
dbSNP (classic) | rs35017910 |
ClinGen | rs35017910 |
ebi | rs35017910 |
HLI | rs35017910 |
Exac | rs35017910 |
Gnomad | rs35017910 |
Varsome | rs35017910 |
LitVar | rs35017910 |
Map | rs35017910 |
PheGenI | rs35017910 |
Biobank | rs35017910 |
1000 genomes | rs35017910 |
hgdp | rs35017910 |
ensembl | rs35017910 |
geneview | rs35017910 |
scholar | rs35017910 |
rs35017910 | |
pharmgkb | rs35017910 |
gwascentral | rs35017910 |
openSNP | rs35017910 |
23andMe | rs35017910 |
SNPshot | rs35017910 |
SNPdbe | rs35017910 |
MSV3d | rs35017910 |
GWAS Ctlg | rs35017910 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35017910(C;C) |
Alt | rs35017910(C;C) |
Reference | Rs35017910(G;G) |
Significance | Other |
Disease | HEMOGLOBIN BURKE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN BURKE |
Reversed | 1 |
HGVS | NC_000011.9:g.5246950C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016282.2, |
[PMID 10883] Characterization of hemoglobin Burke [beta 107 (G9) Gly replaced by Arg].
[PMID 3557997] Hemoglobin Burke: an unstable hemoglobin rarely associated with hemolytic episodes.