rs876657379
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGCATTGGAA;AAGCATTGGAA) | 0 | common in clinvar |
Make rs876657379(-;-) |
Make rs876657379(-;AGCATTGGAAA) |
Make rs876657379(AGCATTGGAAA;AGCATTGGAAA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 157207604 |
Gene | ARID1B |
is a | snp |
is | mentioned by |
dbSNP | rs876657379 |
dbSNP (classic) | rs876657379 |
ClinGen | rs876657379 |
ebi | rs876657379 |
HLI | rs876657379 |
Exac | rs876657379 |
Gnomad | rs876657379 |
Varsome | rs876657379 |
LitVar | rs876657379 |
Map | rs876657379 |
PheGenI | rs876657379 |
Biobank | rs876657379 |
1000 genomes | rs876657379 |
hgdp | rs876657379 |
ensembl | rs876657379 |
geneview | rs876657379 |
scholar | rs876657379 |
rs876657379 | |
pharmgkb | rs876657379 |
gwascentral | rs876657379 |
openSNP | rs876657379 |
23andMe | rs876657379 |
SNPshot | rs876657379 |
SNPdbe | rs876657379 |
MSV3d | rs876657379 |
GWAS Ctlg | rs876657379 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657379(-;-) |
Alt | rs876657379(-;-) |
Reference | Rs876657379(AAGCATTGGAA;AAGCATTGGAA) |
Significance | Pathogenic |
Disease | Coffin-Siris syndrome 1 |
Variation | info |
Gene | ARID1B |
CLNDBN | Coffin-Siris syndrome 1 |
Reversed | 0 |
HGVS | NC_000006.11:g.157528738_157528748delAGCATTGGAAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024208.4, |