rs751298168
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs751298168(A;T) |
| Make rs751298168(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 19 |
| Position | 7533651 |
| Gene | MCOLN1, PNPLA6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751298168 |
| dbSNP (classic) | rs751298168 |
| ClinGen | rs751298168 |
| ebi | rs751298168 |
| HLI | rs751298168 |
| Exac | rs751298168 |
| Gnomad | rs751298168 |
| Varsome | rs751298168 |
| LitVar | rs751298168 |
| Map | rs751298168 |
| PheGenI | rs751298168 |
| Biobank | rs751298168 |
| 1000 genomes | rs751298168 |
| hgdp | rs751298168 |
| ensembl | rs751298168 |
| geneview | rs751298168 |
| scholar | rs751298168 |
| rs751298168 | |
| pharmgkb | rs751298168 |
| gwascentral | rs751298168 |
| openSNP | rs751298168 |
| 23andMe | rs751298168 |
| SNPshot | rs751298168 |
| SNPdbe | rs751298168 |
| MSV3d | rs751298168 |
| GWAS Ctlg | rs751298168 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs751298168(C;C) rs751298168(T;T) |
| Alt | rs751298168(C;C) rs751298168(T;T) |
| Reference | Rs751298168(A;A) |
| Significance | Pathogenic |
| Disease | Ganglioside sialidase deficiency |
| Variation | info |
| Gene | PNPLA6 MCOLN1 |
| CLNDBN | Ganglioside sialidase deficiency |
| Reversed | 0 |
| HGVS | NC_000019.9:g.7598537A>T |
| CLNSRC | |
| CLNACC | RCV000192303.1, |
