rs587776678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776678(-;-) |
Make rs587776678(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 22 |
Position | 23803385 |
Gene | SMARCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776678 |
dbSNP (classic) | rs587776678 |
ClinGen | rs587776678 |
ebi | rs587776678 |
HLI | rs587776678 |
Exac | rs587776678 |
Gnomad | rs587776678 |
Varsome | rs587776678 |
LitVar | rs587776678 |
Map | rs587776678 |
PheGenI | rs587776678 |
Biobank | rs587776678 |
1000 genomes | rs587776678 |
hgdp | rs587776678 |
ensembl | rs587776678 |
geneview | rs587776678 |
scholar | rs587776678 |
rs587776678 | |
pharmgkb | rs587776678 |
gwascentral | rs587776678 |
openSNP | rs587776678 |
23andMe | rs587776678 |
SNPshot | rs587776678 |
SNPdbe | rs587776678 |
MSV3d | rs587776678 |
GWAS Ctlg | rs587776678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776678(-;-) |
Alt | rs587776678(-;-) |
Reference | Rs587776678(G;G) |
Significance | Pathogenic |
Disease | Rhabdoid tumor predisposition syndrome 1 |
Variation | info |
Gene | SMARCB1 |
CLNDBN | Rhabdoid tumor predisposition syndrome 1 |
Reversed | 0 |
HGVS | NC_000022.10:g.24145572delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008488.4, |