rs748363079
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs748363079(C;C) |
| Make rs748363079(C;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 6 |
| Position | 157198835 |
| Gene | ARID1B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748363079 |
| dbSNP (classic) | rs748363079 |
| ClinGen | rs748363079 |
| ebi | rs748363079 |
| HLI | rs748363079 |
| Exac | rs748363079 |
| Gnomad | rs748363079 |
| Varsome | rs748363079 |
| LitVar | rs748363079 |
| Map | rs748363079 |
| PheGenI | rs748363079 |
| Biobank | rs748363079 |
| 1000 genomes | rs748363079 |
| hgdp | rs748363079 |
| ensembl | rs748363079 |
| geneview | rs748363079 |
| scholar | rs748363079 |
| rs748363079 | |
| pharmgkb | rs748363079 |
| gwascentral | rs748363079 |
| openSNP | rs748363079 |
| 23andMe | rs748363079 |
| SNPshot | rs748363079 |
| SNPdbe | rs748363079 |
| MSV3d | rs748363079 |
| GWAS Ctlg | rs748363079 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748363079(A;A) rs748363079(C;C) |
| Alt | rs748363079(A;A) rs748363079(C;C) |
| Reference | Rs748363079(T;T) |
| Significance | Pathogenic |
| Disease | Coffin-Siris syndrome 1 |
| Variation | info |
| Gene | ARID1B |
| CLNDBN | Coffin-Siris syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.157519969T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024211.3, |
