rs35353749
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in complete genomics |
Make rs35353749(A;C) |
Make rs35353749(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226696 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35353749 |
dbSNP (classic) | rs35353749 |
ClinGen | rs35353749 |
ebi | rs35353749 |
HLI | rs35353749 |
Exac | rs35353749 |
Gnomad | rs35353749 |
Varsome | rs35353749 |
LitVar | rs35353749 |
Map | rs35353749 |
PheGenI | rs35353749 |
Biobank | rs35353749 |
1000 genomes | rs35353749 |
hgdp | rs35353749 |
ensembl | rs35353749 |
geneview | rs35353749 |
scholar | rs35353749 |
rs35353749 | |
pharmgkb | rs35353749 |
gwascentral | rs35353749 |
openSNP | rs35353749 |
23andMe | rs35353749 |
SNPshot | rs35353749 |
SNPdbe | rs35353749 |
MSV3d | rs35353749 |
GWAS Ctlg | rs35353749 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35353749(C;C) |
Alt | rs35353749(C;C) |
Reference | Rs35353749(A;A) |
Significance | Other |
Disease | HEMOGLOBIN J (CAIRO) |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN J (CAIRO) |
Reversed | 1 |
HGVS | NC_000011.9:g.5247926T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000016409.2, |
[PMID 1247583] Hemoglobin J Cairo: beta 65 (E9) Lys leads to Gln, A new hemoglobin variant discovered in an Egyptian family.