rs35887507
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs35887507(A;A) |
Make rs35887507(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 5234193 |
Gene | HBD |
is a | snp |
is | mentioned by |
dbSNP | rs35887507 |
dbSNP (classic) | rs35887507 |
ClinGen | rs35887507 |
ebi | rs35887507 |
HLI | rs35887507 |
Exac | rs35887507 |
Gnomad | rs35887507 |
Varsome | rs35887507 |
LitVar | rs35887507 |
Map | rs35887507 |
PheGenI | rs35887507 |
Biobank | rs35887507 |
1000 genomes | rs35887507 |
hgdp | rs35887507 |
ensembl | rs35887507 |
geneview | rs35887507 |
scholar | rs35887507 |
rs35887507 | |
pharmgkb | rs35887507 |
gwascentral | rs35887507 |
openSNP | rs35887507 |
23andMe | rs35887507 |
SNPshot | rs35887507 |
SNPdbe | rs35887507 |
MSV3d | rs35887507 |
GWAS Ctlg | rs35887507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35887507(A;A) |
Alt | rs35887507(A;A) |
Reference | Rs35887507(G;G) |
Significance | Pathogenic |
Disease | Delta-0-thalassemia |
Variation | info |
Gene | HBD |
CLNDBN | Delta-0-thalassemia |
Reversed | 1 |
HGVS | NC_000011.9:g.5255423C>T |
CLNSRC | HBVAR OMIM Allelic Variant |
CLNACC | RCV000016229.25, |
[PMID 8118467] A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37.