rs34210688
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGCACTGTGACAAG;CTGCACTGTGACAAG) | 0 | |
(TGCACTGTGACAAGC;TGCACTGTGACAAGC) | 0 | common in clinvar |
Make rs34210688(-;-) |
Make rs34210688(-;CTGCACTGTGACAAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226604 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs34210688 |
dbSNP (classic) | rs34210688 |
ClinGen | rs34210688 |
ebi | rs34210688 |
HLI | rs34210688 |
Exac | rs34210688 |
Gnomad | rs34210688 |
Varsome | rs34210688 |
LitVar | rs34210688 |
Map | rs34210688 |
PheGenI | rs34210688 |
Biobank | rs34210688 |
1000 genomes | rs34210688 |
hgdp | rs34210688 |
ensembl | rs34210688 |
geneview | rs34210688 |
scholar | rs34210688 |
rs34210688 | |
pharmgkb | rs34210688 |
gwascentral | rs34210688 |
openSNP | rs34210688 |
23andMe | rs34210688 |
SNPshot | rs34210688 |
SNPdbe | rs34210688 |
MSV3d | rs34210688 |
GWAS Ctlg | rs34210688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs34210688(-;-) |
Alt | rs34210688(-;-) |
Reference | rs34210688(TGTGACAAGCTGCAC;TGTGACAAGCTGCAC) |
Significance | Other |
Disease | HEMOGLOBIN GUN HILL |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN GUN HILL |
Reversed | 1 |
HGVS | NC_000011.9:g.5247834_5247848delCTTGTCACAGTGCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016365.2, |
[PMID 19375] Some properties of hemoglobin Gun Hill.
[PMID 5540175] Synthesis of hemoglobin Gun Hill: increased synthesis of the heme-free beta-GH globin chain and subunit exchange with a free alpha-chain pool.
[PMID 5675976] Hemoglobin Gun Hill: an unstable protein associated with chronic hemolysis.
[PMID 6038175] Hemoglobin Gun Hill: deletion of five amino acid residues and impaired heme-globin binding.