rs876657378
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs876657378(-;-) |
Make rs876657378(-;AAG) |
Make rs876657378(AAG;AAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 10996255 |
Gene | SMARCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs876657378 |
dbSNP (classic) | rs876657378 |
ClinGen | rs876657378 |
ebi | rs876657378 |
HLI | rs876657378 |
Exac | rs876657378 |
Gnomad | rs876657378 |
Varsome | rs876657378 |
LitVar | rs876657378 |
Map | rs876657378 |
PheGenI | rs876657378 |
Biobank | rs876657378 |
1000 genomes | rs876657378 |
hgdp | rs876657378 |
ensembl | rs876657378 |
geneview | rs876657378 |
scholar | rs876657378 |
rs876657378 | |
pharmgkb | rs876657378 |
gwascentral | rs876657378 |
openSNP | rs876657378 |
23andMe | rs876657378 |
SNPshot | rs876657378 |
SNPdbe | rs876657378 |
MSV3d | rs876657378 |
GWAS Ctlg | rs876657378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657378(-;-) |
Alt | rs876657378(-;-) |
Reference | Rs876657378(AGA;AGA) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | SMARCA4 |
CLNDBN | Mental retardation, autosomal dominant 16 |
Reversed | 0 |
HGVS | NC_000019.9:g.11106931_11106933delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023284.3, |