rs797045982
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797045982(-;G) |
Make rs797045982(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11030827 |
Gene | SMARCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs797045982 |
dbSNP (classic) | rs797045982 |
ClinGen | rs797045982 |
ebi | rs797045982 |
HLI | rs797045982 |
Exac | rs797045982 |
Gnomad | rs797045982 |
Varsome | rs797045982 |
LitVar | rs797045982 |
Map | rs797045982 |
PheGenI | rs797045982 |
Biobank | rs797045982 |
1000 genomes | rs797045982 |
hgdp | rs797045982 |
ensembl | rs797045982 |
geneview | rs797045982 |
scholar | rs797045982 |
rs797045982 | |
pharmgkb | rs797045982 |
gwascentral | rs797045982 |
openSNP | rs797045982 |
23andMe | rs797045982 |
SNPshot | rs797045982 |
SNPdbe | rs797045982 |
MSV3d | rs797045982 |
GWAS Ctlg | rs797045982 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045982(G;G) |
Alt | rs797045982(G;G) |
Reference | Rs797045982(-;-) |
Significance | Pathogenic |
Disease | Rhabdoid tumor predisposition syndrome 2 |
Variation | info |
Gene | SMARCA4 |
CLNDBN | Rhabdoid tumor predisposition syndrome 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.11141503dupG |
CLNSRC | |
CLNACC | RCV000194222.1, |