rs398122368
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122368(A;A) |
Make rs398122368(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 23791772 |
Gene | SMARCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122368 |
dbSNP (classic) | rs398122368 |
ClinGen | rs398122368 |
ebi | rs398122368 |
HLI | rs398122368 |
Exac | rs398122368 |
Gnomad | rs398122368 |
Varsome | rs398122368 |
LitVar | rs398122368 |
Map | rs398122368 |
PheGenI | rs398122368 |
Biobank | rs398122368 |
1000 genomes | rs398122368 |
hgdp | rs398122368 |
ensembl | rs398122368 |
geneview | rs398122368 |
scholar | rs398122368 |
rs398122368 | |
pharmgkb | rs398122368 |
gwascentral | rs398122368 |
openSNP | rs398122368 |
23andMe | rs398122368 |
SNPshot | rs398122368 |
SNPdbe | rs398122368 |
MSV3d | rs398122368 |
GWAS Ctlg | rs398122368 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122368(A;A) |
Alt | rs398122368(A;A) |
Reference | Rs398122368(G;G) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | SMARCB1 |
CLNDBN | Mental retardation, autosomal dominant 15 not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.24133959G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074462.4, RCV000262341.1, |