rs786200935
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786200935(-;-) |
Make rs786200935(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 41869165 |
Gene | MIR6797, RPS19 |
is a | snp |
is | mentioned by |
dbSNP | rs786200935 |
dbSNP (classic) | rs786200935 |
ClinGen | rs786200935 |
ebi | rs786200935 |
HLI | rs786200935 |
Exac | rs786200935 |
Gnomad | rs786200935 |
Varsome | rs786200935 |
LitVar | rs786200935 |
Map | rs786200935 |
PheGenI | rs786200935 |
Biobank | rs786200935 |
1000 genomes | rs786200935 |
hgdp | rs786200935 |
ensembl | rs786200935 |
geneview | rs786200935 |
scholar | rs786200935 |
rs786200935 | |
pharmgkb | rs786200935 |
gwascentral | rs786200935 |
openSNP | rs786200935 |
23andMe | rs786200935 |
SNPshot | rs786200935 |
SNPdbe | rs786200935 |
MSV3d | rs786200935 |
GWAS Ctlg | rs786200935 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200935(-;-) |
Alt | rs786200935(-;-) |
Reference | Rs786200935(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.42373235delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033186.3, |