rs113860699
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs113860699(A;A) |
| Make rs113860699(A;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 156138759 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113860699 |
| dbSNP (classic) | rs113860699 |
| ClinGen | rs113860699 |
| ebi | rs113860699 |
| HLI | rs113860699 |
| Exac | rs113860699 |
| Gnomad | rs113860699 |
| Varsome | rs113860699 |
| LitVar | rs113860699 |
| Map | rs113860699 |
| PheGenI | rs113860699 |
| Biobank | rs113860699 |
| 1000 genomes | rs113860699 |
| hgdp | rs113860699 |
| ensembl | rs113860699 |
| geneview | rs113860699 |
| scholar | rs113860699 |
| rs113860699 | |
| pharmgkb | rs113860699 |
| gwascentral | rs113860699 |
| openSNP | rs113860699 |
| 23andMe | rs113860699 |
| SNPshot | rs113860699 |
| SNPdbe | rs113860699 |
| MSV3d | rs113860699 |
| GWAS Ctlg | rs113860699 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113860699(A;A) rs113860699(C;C) rs113860699(G;G) |
| Alt | rs113860699(A;A) rs113860699(C;C) rs113860699(G;G) |
| Reference | Rs113860699(T;T) |
| Significance | Pathogenic |
| Disease | Hutchinson-Gilford syndrome |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Hutchinson-Gilford syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156108550T>A; NC_000001.10:g.156108550T>C |
| CLNSRC | |
| CLNACC | RCV000192017.1, RCV000192018.1, |
