rs875989800
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs875989800(-;-) |
Make rs875989800(-;AGA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 23833676 |
Gene | SMARCB1 |
is a | snp |
is | mentioned by |
dbSNP | rs875989800 |
dbSNP (classic) | rs875989800 |
ClinGen | rs875989800 |
ebi | rs875989800 |
HLI | rs875989800 |
Exac | rs875989800 |
Gnomad | rs875989800 |
Varsome | rs875989800 |
LitVar | rs875989800 |
Map | rs875989800 |
PheGenI | rs875989800 |
Biobank | rs875989800 |
1000 genomes | rs875989800 |
hgdp | rs875989800 |
ensembl | rs875989800 |
geneview | rs875989800 |
scholar | rs875989800 |
rs875989800 | |
pharmgkb | rs875989800 |
gwascentral | rs875989800 |
openSNP | rs875989800 |
23andMe | rs875989800 |
SNPshot | rs875989800 |
SNPdbe | rs875989800 |
MSV3d | rs875989800 |
GWAS Ctlg | rs875989800 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989800(-;-) |
Alt | rs875989800(-;-) |
Reference | Rs875989800(AGA;AGA) |
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.24175863_24175865delAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023121.5, RCV000377856.1, |