rs35452098
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTG;CTG) | 0 | common in complete genomics |
Make rs35452098(-;-) |
Make rs35452098(-;CTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 5226664 |
Gene | HBB |
is a | snp |
is | mentioned by |
dbSNP | rs35452098 |
dbSNP (classic) | rs35452098 |
ClinGen | rs35452098 |
ebi | rs35452098 |
HLI | rs35452098 |
Exac | rs35452098 |
Gnomad | rs35452098 |
Varsome | rs35452098 |
LitVar | rs35452098 |
Map | rs35452098 |
PheGenI | rs35452098 |
Biobank | rs35452098 |
1000 genomes | rs35452098 |
hgdp | rs35452098 |
ensembl | rs35452098 |
geneview | rs35452098 |
scholar | rs35452098 |
rs35452098 | |
pharmgkb | rs35452098 |
gwascentral | rs35452098 |
openSNP | rs35452098 |
23andMe | rs35452098 |
SNPshot | rs35452098 |
SNPdbe | rs35452098 |
MSV3d | rs35452098 |
GWAS Ctlg | rs35452098 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35452098(-;-) |
Alt | rs35452098(-;-) |
Reference | Rs35452098(CTG;CTG) |
Significance | Other |
Disease | HEMOGLOBIN VICKSBURG |
Variation | info |
Gene | HBB |
CLNDBN | HEMOGLOBIN VICKSBURG |
Reversed | 1 |
HGVS | NC_000011.9:g.5247894_5247896delCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016636.2, |
[PMID 6165992] beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].