rs786200936
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786200936(A;A) |
Make rs786200936(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 41869722 |
Gene | MIR6797, RPS19 |
is a | snp |
is | mentioned by |
dbSNP | rs786200936 |
dbSNP (classic) | rs786200936 |
ClinGen | rs786200936 |
ebi | rs786200936 |
HLI | rs786200936 |
Exac | rs786200936 |
Gnomad | rs786200936 |
Varsome | rs786200936 |
LitVar | rs786200936 |
Map | rs786200936 |
PheGenI | rs786200936 |
Biobank | rs786200936 |
1000 genomes | rs786200936 |
hgdp | rs786200936 |
ensembl | rs786200936 |
geneview | rs786200936 |
scholar | rs786200936 |
rs786200936 | |
pharmgkb | rs786200936 |
gwascentral | rs786200936 |
openSNP | rs786200936 |
23andMe | rs786200936 |
SNPshot | rs786200936 |
SNPdbe | rs786200936 |
MSV3d | rs786200936 |
GWAS Ctlg | rs786200936 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200936(A;A) |
Alt | rs786200936(A;A) |
Reference | Rs786200936(G;G) |
Significance | Pathogenic |
Disease | Diamond-Blackfan anemia 1 |
Variation | info |
Gene | MIR6797 RPS19 |
CLNDBN | Diamond-Blackfan anemia 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.42373792G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033189.6, |