rs63749858
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs63749858(-;-) |
Make rs63749858(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225611 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs63749858 |
dbSNP (classic) | rs63749858 |
ClinGen | rs63749858 |
ebi | rs63749858 |
HLI | rs63749858 |
Exac | rs63749858 |
Gnomad | rs63749858 |
Varsome | rs63749858 |
LitVar | rs63749858 |
Map | rs63749858 |
PheGenI | rs63749858 |
Biobank | rs63749858 |
1000 genomes | rs63749858 |
hgdp | rs63749858 |
ensembl | rs63749858 |
geneview | rs63749858 |
scholar | rs63749858 |
rs63749858 | |
pharmgkb | rs63749858 |
gwascentral | rs63749858 |
openSNP | rs63749858 |
23andMe | rs63749858 |
SNPshot | rs63749858 |
SNPdbe | rs63749858 |
MSV3d | rs63749858 |
GWAS Ctlg | rs63749858 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63749858(-;-) |
Alt | rs63749858(-;-) |
Reference | Rs63749858(A;A) |
Significance | Other |
Disease | HEMOGLOBIN SAVERNE |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN SAVERNE |
Reversed | 1 |
HGVS | NC_000011.9:g.5246841delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016588.3, |
[PMID 3170236] Hemoglobin Saverne: a new variant with elongated beta chains: structural and functional properties.