rs786200892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786200892(-;G) |
Make rs786200892(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 56042452 |
Gene | LOC105369780, RPS26 |
is a | snp |
is | mentioned by |
dbSNP | rs786200892 |
dbSNP (classic) | rs786200892 |
ClinGen | rs786200892 |
ebi | rs786200892 |
HLI | rs786200892 |
Exac | rs786200892 |
Gnomad | rs786200892 |
Varsome | rs786200892 |
LitVar | rs786200892 |
Map | rs786200892 |
PheGenI | rs786200892 |
Biobank | rs786200892 |
1000 genomes | rs786200892 |
hgdp | rs786200892 |
ensembl | rs786200892 |
geneview | rs786200892 |
scholar | rs786200892 |
rs786200892 | |
pharmgkb | rs786200892 |
gwascentral | rs786200892 |
openSNP | rs786200892 |
23andMe | rs786200892 |
SNPshot | rs786200892 |
SNPdbe | rs786200892 |
MSV3d | rs786200892 |
GWAS Ctlg | rs786200892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200892(G;G) |
Alt | rs786200892(G;G) |
Reference | Rs786200892(-;-) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 10 |
Variation | info |
Gene | RPS26 |
CLNDBN | Diamond-Blackfan anemia 10 |
Reversed | 0 |
HGVS | NC_000012.11:g.56436236dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006499.4, |