rs376355678
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs376355678(C;G) |
| Make rs376355678(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 18 |
| Position | 62106985 |
| Gene | PIGN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376355678 |
| dbSNP (classic) | rs376355678 |
| ClinGen | rs376355678 |
| ebi | rs376355678 |
| HLI | rs376355678 |
| Exac | rs376355678 |
| Gnomad | rs376355678 |
| Varsome | rs376355678 |
| LitVar | rs376355678 |
| Map | rs376355678 |
| PheGenI | rs376355678 |
| Biobank | rs376355678 |
| 1000 genomes | rs376355678 |
| hgdp | rs376355678 |
| ensembl | rs376355678 |
| geneview | rs376355678 |
| scholar | rs376355678 |
| rs376355678 | |
| pharmgkb | rs376355678 |
| gwascentral | rs376355678 |
| openSNP | rs376355678 |
| 23andMe | rs376355678 |
| SNPshot | rs376355678 |
| SNPdbe | rs376355678 |
| MSV3d | rs376355678 |
| GWAS Ctlg | rs376355678 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs376355678(G;G) rs376355678(T;T) |
| Alt | rs376355678(G;G) rs376355678(T;T) |
| Reference | Rs376355678(C;C) |
| Significance | Pathogenic |
| Disease | Multiple congenital anomalies-hypotonia-seizures syndrome 1 not provided |
| Variation | info |
| Gene | PIGN |
| CLNDBN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 not provided |
| Reversed | 0 |
| HGVS | NC_000018.9:g.59774218C>G; NC_000018.9:g.59774218C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000241768.1, RCV000488252.1, |
