rs149339264
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 6.2 | Dilated cardiomyopathy |
| (C;C) | 0 | common in clinvar |
| Make rs149339264(C;T) |
| Make rs149339264(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 156137190 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149339264 |
| dbSNP (classic) | rs149339264 |
| ClinGen | rs149339264 |
| ebi | rs149339264 |
| HLI | rs149339264 |
| Exac | rs149339264 |
| Gnomad | rs149339264 |
| Varsome | rs149339264 |
| LitVar | rs149339264 |
| Map | rs149339264 |
| PheGenI | rs149339264 |
| Biobank | rs149339264 |
| 1000 genomes | rs149339264 |
| hgdp | rs149339264 |
| ensembl | rs149339264 |
| geneview | rs149339264 |
| scholar | rs149339264 |
| rs149339264 | |
| pharmgkb | rs149339264 |
| gwascentral | rs149339264 |
| openSNP | rs149339264 |
| 23andMe | rs149339264 |
| SNPshot | rs149339264 |
| SNPdbe | rs149339264 |
| MSV3d | rs149339264 |
| GWAS Ctlg | rs149339264 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149339264(A;A) rs149339264(T;T) |
| Alt | rs149339264(A;A) rs149339264(T;T) |
| Reference | Rs149339264(C;C) |
| Significance | Other |
| Disease | Cardiovascular phenotype not specified Charcot-Marie-Tooth disease Dilated Cardiomyopathy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Limb-Girdle Muscular Dystrophy Mandibuloacral dysplasia Lipoatrophy with Diabetes Congenital muscular dystrophy Charcot-Marie-Tooth Lethal tight skin contracture syndrome |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Cardiovascular phenotype not specified Charcot-Marie-Tooth disease, type 2 Dilated Cardiomyopathy, Dominant Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy Limb-Girdle Muscular Dystrophy, Recessive Mandibuloacral dysplasia Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy, LMNA-related Charcot-Marie-Tooth, Type 2 Lethal tight skin contracture syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156106981C>A; NC_000001.10:g.156106981C>T |
| CLNSRC | Illumina |
| CLNACC | RCV000250959.1, RCV000041322.4, RCV000233927.1, RCV000242680.1, RCV000262946.1, RCV000285909.1, RCV000289458.1, RCV000320484.1, RCV000337260.1, RCV000340752.1, RCV000377490.1, RCV000380292.1, RCV000391138.1, RCV000399953.1, |
