rs63750840
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs63750840(C;G) |
Make rs63750840(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226962 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs63750840 |
dbSNP (classic) | rs63750840 |
ClinGen | rs63750840 |
ebi | rs63750840 |
HLI | rs63750840 |
Exac | rs63750840 |
Gnomad | rs63750840 |
Varsome | rs63750840 |
LitVar | rs63750840 |
Map | rs63750840 |
PheGenI | rs63750840 |
Biobank | rs63750840 |
1000 genomes | rs63750840 |
hgdp | rs63750840 |
ensembl | rs63750840 |
geneview | rs63750840 |
scholar | rs63750840 |
rs63750840 | |
pharmgkb | rs63750840 |
gwascentral | rs63750840 |
openSNP | rs63750840 |
23andMe | rs63750840 |
SNPshot | rs63750840 |
SNPdbe | rs63750840 |
MSV3d | rs63750840 |
GWAS Ctlg | rs63750840 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750840(A;A) rs63750840(G;G) rs63750840(T;T) |
Alt | rs63750840(A;A) rs63750840(G;G) rs63750840(T;T) |
Reference | Rs63750840(C;C) |
Significance | Other |
Disease | HEMOGLOBIN D (OULED RABAH) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN D (OULED RABAH) |
Reversed | 1 |
HGVS | NC_000011.9:g.5248192G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016321.3, |
[PMID 4719147] Two variants of hemoglobin D in the algerian population: hemoglobin D Ouled Rabah 19 (BI) Asn leads to Lys and hemoglobin D Iran 22 (Br) Glu leads to Gln.