rs886037954
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs886037954(A;T) |
| Make rs886037954(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 28783934 |
| Gene | PPP1CB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886037954 |
| dbSNP (classic) | rs886037954 |
| ClinGen | rs886037954 |
| ebi | rs886037954 |
| HLI | rs886037954 |
| Exac | rs886037954 |
| Gnomad | rs886037954 |
| Varsome | rs886037954 |
| LitVar | rs886037954 |
| Map | rs886037954 |
| PheGenI | rs886037954 |
| Biobank | rs886037954 |
| 1000 genomes | rs886037954 |
| hgdp | rs886037954 |
| ensembl | rs886037954 |
| geneview | rs886037954 |
| scholar | rs886037954 |
| rs886037954 | |
| pharmgkb | rs886037954 |
| gwascentral | rs886037954 |
| openSNP | rs886037954 |
| 23andMe | rs886037954 |
| SNPshot | rs886037954 |
| SNPdbe | rs886037954 |
| MSV3d | rs886037954 |
| GWAS Ctlg | rs886037954 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886037954(C;C) rs886037954(T;T) |
| Alt | rs886037954(C;C) rs886037954(T;T) |
| Reference | Rs886037954(A;A) |
| Significance | Pathogenic |
| Disease | not provided Noonan syndrome-like disorder with loose anagen hair 2 |
| Variation | info |
| Gene | PPP1CB |
| CLNDBN | not provided Noonan syndrome-like disorder with loose anagen hair 2 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.29006800A>C; NC_000002.11:g.29006800A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000257936.1, RCV000490621.1, RCV000257978.1, RCV000490623.1, |
