rs587779746
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587779746(-;-) |
Make rs587779746(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 157200971 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs587779746 |
dbSNP (classic) | rs587779746 |
ClinGen | rs587779746 |
ebi | rs587779746 |
HLI | rs587779746 |
Exac | rs587779746 |
Gnomad | rs587779746 |
Varsome | rs587779746 |
LitVar | rs587779746 |
Map | rs587779746 |
PheGenI | rs587779746 |
Biobank | rs587779746 |
1000 genomes | rs587779746 |
hgdp | rs587779746 |
ensembl | rs587779746 |
geneview | rs587779746 |
scholar | rs587779746 |
rs587779746 | |
pharmgkb | rs587779746 |
gwascentral | rs587779746 |
openSNP | rs587779746 |
23andMe | rs587779746 |
SNPshot | rs587779746 |
SNPdbe | rs587779746 |
MSV3d | rs587779746 |
GWAS Ctlg | rs587779746 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779746(-;-) |
Alt | rs587779746(-;-) |
Reference | Rs587779746(G;G) |
Significance | Pathogenic |
Disease | Coffin Siris/Intellectual Disability |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin Siris/Intellectual Disability |
Reversed | 0 |
HGVS | NC_000006.11:g.157522105delG |
CLNSRC | |
CLNACC | RCV000114275.1, |