rs786203998
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786203998(A;T) |
Make rs786203998(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 56042423 |
Gene | LOC105369780, RPS26 |
is a | snp |
is | mentioned by |
dbSNP | rs786203998 |
dbSNP (classic) | rs786203998 |
ClinGen | rs786203998 |
ebi | rs786203998 |
HLI | rs786203998 |
Exac | rs786203998 |
Gnomad | rs786203998 |
Varsome | rs786203998 |
LitVar | rs786203998 |
Map | rs786203998 |
PheGenI | rs786203998 |
Biobank | rs786203998 |
1000 genomes | rs786203998 |
hgdp | rs786203998 |
ensembl | rs786203998 |
geneview | rs786203998 |
scholar | rs786203998 |
rs786203998 | |
pharmgkb | rs786203998 |
gwascentral | rs786203998 |
openSNP | rs786203998 |
23andMe | rs786203998 |
SNPshot | rs786203998 |
SNPdbe | rs786203998 |
MSV3d | rs786203998 |
GWAS Ctlg | rs786203998 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786203998(T;T) |
Alt | rs786203998(T;T) |
Reference | Rs786203998(A;A) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
Variation | info |
Gene | RPS26 |
CLNDBN | Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
Reversed | 0 |
HGVS | NC_000012.11:g.56436207A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000167575.4, RCV000191913.1, |