rs876657380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs876657380(-;-) |
Make rs876657380(-;AA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 157181156 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs876657380 |
dbSNP (classic) | rs876657380 |
ClinGen | rs876657380 |
ebi | rs876657380 |
HLI | rs876657380 |
Exac | rs876657380 |
Gnomad | rs876657380 |
Varsome | rs876657380 |
LitVar | rs876657380 |
Map | rs876657380 |
PheGenI | rs876657380 |
Biobank | rs876657380 |
1000 genomes | rs876657380 |
hgdp | rs876657380 |
ensembl | rs876657380 |
geneview | rs876657380 |
scholar | rs876657380 |
rs876657380 | |
pharmgkb | rs876657380 |
gwascentral | rs876657380 |
openSNP | rs876657380 |
23andMe | rs876657380 |
SNPshot | rs876657380 |
SNPdbe | rs876657380 |
MSV3d | rs876657380 |
GWAS Ctlg | rs876657380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657380(-;-) |
Alt | rs876657380(-;-) |
Reference | Rs876657380(AA;AA) |
Significance | Pathogenic |
Disease | Coffin-Siris syndrome 1 |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin-Siris syndrome 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.157502290_157502291delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024210.4, |