rs281875230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281875230(C;G) |
Make rs281875230(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 11030816 |
Gene | SMARCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs281875230 |
dbSNP (classic) | rs281875230 |
ClinGen | rs281875230 |
ebi | rs281875230 |
HLI | rs281875230 |
Exac | rs281875230 |
Gnomad | rs281875230 |
Varsome | rs281875230 |
LitVar | rs281875230 |
Map | rs281875230 |
PheGenI | rs281875230 |
Biobank | rs281875230 |
1000 genomes | rs281875230 |
hgdp | rs281875230 |
ensembl | rs281875230 |
geneview | rs281875230 |
scholar | rs281875230 |
rs281875230 | |
pharmgkb | rs281875230 |
gwascentral | rs281875230 |
openSNP | rs281875230 |
23andMe | rs281875230 |
SNPshot | rs281875230 |
SNPdbe | rs281875230 |
MSV3d | rs281875230 |
GWAS Ctlg | rs281875230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281875230(G;G) |
Alt | rs281875230(G;G) |
Reference | Rs281875230(C;C) |
Significance | Pathogenic |
Disease | Mental retardation not provided |
Variation | info |
Gene | SMARCA4 |
CLNDBN | Mental retardation, autosomal dominant 16 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.11141492C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000023289.4, RCV000059688.1, |
[PMID 22426308] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.