rs35660883
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
({{{allele1}}};{{{allele2}}}) | 0 | common in clinvar |
(-;-) | 0 | common in complete genomics |
Make rs35660883(-;CT) |
Make rs35660883(CT;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5225605 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35660883 |
dbSNP (classic) | rs35660883 |
ClinGen | rs35660883 |
ebi | rs35660883 |
HLI | rs35660883 |
Exac | rs35660883 |
Gnomad | rs35660883 |
Varsome | rs35660883 |
LitVar | rs35660883 |
Map | rs35660883 |
PheGenI | rs35660883 |
Biobank | rs35660883 |
1000 genomes | rs35660883 |
hgdp | rs35660883 |
ensembl | rs35660883 |
geneview | rs35660883 |
scholar | rs35660883 |
rs35660883 | |
pharmgkb | rs35660883 |
gwascentral | rs35660883 |
openSNP | rs35660883 |
23andMe | rs35660883 |
SNPshot | rs35660883 |
SNPdbe | rs35660883 |
MSV3d | rs35660883 |
GWAS Ctlg | rs35660883 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35660883(CT;CT) |
Alt | rs35660883(CT;CT) |
Reference | Rs35660883(-;-) |
Significance | Other |
Disease | HEMOGLOBIN CRANSTON |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN CRANSTON |
Reversed | 1 |
HGVS | NC_000011.9:g.5246835_5246836insAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016308.2, |
[PMID 1059149] Hemoglobin Cranston, an unstable variant having an elongated beta chain due to nonhomologous crossover between two normal beta chain genes.
[PMID 7441746] Equilibrium, kinetic and structural properties of hemoglobin Cranston, an elongated beta chain variant.
[PMID 7441747] Synthesis of hemoglobin Cranston, and elongated beta chain variant.