rs374434303
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs374434303(C;T) |
| Make rs374434303(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 7561509 |
| Gene | PNPLA6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374434303 |
| dbSNP (classic) | rs374434303 |
| ClinGen | rs374434303 |
| ebi | rs374434303 |
| HLI | rs374434303 |
| Exac | rs374434303 |
| Gnomad | rs374434303 |
| Varsome | rs374434303 |
| LitVar | rs374434303 |
| Map | rs374434303 |
| PheGenI | rs374434303 |
| Biobank | rs374434303 |
| 1000 genomes | rs374434303 |
| hgdp | rs374434303 |
| ensembl | rs374434303 |
| geneview | rs374434303 |
| scholar | rs374434303 |
| rs374434303 | |
| pharmgkb | rs374434303 |
| gwascentral | rs374434303 |
| openSNP | rs374434303 |
| 23andMe | rs374434303 |
| SNPshot | rs374434303 |
| SNPdbe | rs374434303 |
| MSV3d | rs374434303 |
| GWAS Ctlg | rs374434303 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs374434303(T;T) |
| Alt | rs374434303(T;T) |
| Reference | Rs374434303(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ataxia Dysarthria Hypogonadotrophic hypogonadism Cerebellar atrophy Gait ataxia |
| Variation | info |
| Gene | PNPLA6 |
| CLNDBN | Ataxia Dysarthria Hypogonadotrophic hypogonadism Cerebellar atrophy Gait ataxia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.7626395C>T |
| CLNSRC | |
| CLNACC | RCV000414761.1, RCV000415064.1, |
