rs779769475
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779769475(G;T) |
Make rs779769475(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 23791820 |
Gene | SMARCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs779769475 |
dbSNP (classic) | rs779769475 |
ClinGen | rs779769475 |
ebi | rs779769475 |
HLI | rs779769475 |
Exac | rs779769475 |
Gnomad | rs779769475 |
Varsome | rs779769475 |
LitVar | rs779769475 |
Map | rs779769475 |
PheGenI | rs779769475 |
Biobank | rs779769475 |
1000 genomes | rs779769475 |
hgdp | rs779769475 |
ensembl | rs779769475 |
geneview | rs779769475 |
scholar | rs779769475 |
rs779769475 | |
pharmgkb | rs779769475 |
gwascentral | rs779769475 |
openSNP | rs779769475 |
23andMe | rs779769475 |
SNPshot | rs779769475 |
SNPdbe | rs779769475 |
MSV3d | rs779769475 |
GWAS Ctlg | rs779769475 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779769475(A;A) rs779769475(T;T) |
Alt | rs779769475(A;A) rs779769475(T;T) |
Reference | Rs779769475(G;G) |
Significance | Pathogenic |
Disease | Rhabdoid tumor predisposition syndrome 1 Schwannomatosis not provided |
Variation | info |
Gene | SMARCB1 |
CLNDBN | Rhabdoid tumor predisposition syndrome 1 Schwannomatosis not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.24134007G>T |
CLNSRC | |
CLNACC | RCV000458462.1, RCV000490024.1, |