rs368743618
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs368743618(C;T) |
| Make rs368743618(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 219250552 |
| Gene | STK16, TUBA4A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368743618 |
| dbSNP (classic) | rs368743618 |
| ClinGen | rs368743618 |
| ebi | rs368743618 |
| HLI | rs368743618 |
| Exac | rs368743618 |
| Gnomad | rs368743618 |
| Varsome | rs368743618 |
| LitVar | rs368743618 |
| Map | rs368743618 |
| PheGenI | rs368743618 |
| Biobank | rs368743618 |
| 1000 genomes | rs368743618 |
| hgdp | rs368743618 |
| ensembl | rs368743618 |
| geneview | rs368743618 |
| scholar | rs368743618 |
| rs368743618 | |
| pharmgkb | rs368743618 |
| gwascentral | rs368743618 |
| openSNP | rs368743618 |
| 23andMe | rs368743618 |
| SNPshot | rs368743618 |
| SNPdbe | rs368743618 |
| MSV3d | rs368743618 |
| GWAS Ctlg | rs368743618 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368743618(T;T) |
| Alt | rs368743618(T;T) |
| Reference | Rs368743618(C;C) |
| Significance | Pathogenic |
| Disease | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
| Variation | info |
| Gene | STK16 TUBA4A |
| CLNDBN | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
| Reversed | 0 |
| HGVS | NC_000002.11:g.220115274C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000157038.3, |
