rs4641
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4641(C;T) |
| Make rs4641(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156137743 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4641 |
| dbSNP (classic) | rs4641 |
| ClinGen | rs4641 |
| ebi | rs4641 |
| HLI | rs4641 |
| Exac | rs4641 |
| Gnomad | rs4641 |
| Varsome | rs4641 |
| LitVar | rs4641 |
| Map | rs4641 |
| PheGenI | rs4641 |
| Biobank | rs4641 |
| 1000 genomes | rs4641 |
| hgdp | rs4641 |
| ensembl | rs4641 |
| geneview | rs4641 |
| scholar | rs4641 |
| rs4641 | |
| pharmgkb | rs4641 |
| gwascentral | rs4641 |
| openSNP | rs4641 |
| 23andMe | rs4641 |
| SNPshot | rs4641 |
| SNPdbe | rs4641 |
| MSV3d | rs4641 |
| GWAS Ctlg | rs4641 |
| GMAF | 0.2057 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19841875] Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study
| ClinVar | |
|---|---|
| Risk | rs4641(T;T) |
| Alt | rs4641(T;T) |
| Reference | Rs4641(C;C) |
| Significance | Other |
| Disease | not specified not provided Mandibuloacral dysplasia with type A lipodystrophy Cardiovascular phenotype Familial partial lipodystrophy Emery-Dreifuss muscular dystrophy Mandibuloacral dysplasia Congenital muscular dystrophy Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Limb-Girdle Muscular Dystrophy Dilated Cardiomyopathy Charcot-Marie-Tooth Lipoatrophy with Diabetes |
| Variation | info |
| Gene | LMNA |
| CLNDBN | not specified not provided Mandibuloacral dysplasia with type A lipodystrophy Cardiovascular phenotype Familial partial lipodystrophy Emery-Dreifuss muscular dystrophy Mandibuloacral dysplasia Congenital muscular dystrophy, LMNA-related Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Limb-Girdle Muscular Dystrophy, Recessive Dilated Cardiomyopathy, Dominant Charcot-Marie-Tooth, Type 2 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156107534C>T |
| CLNSRC | Shahid Beheshti University of Medical Sciences |
| CLNACC | RCV000041327.8, RCV000057348.2, RCV000225004.2, RCV000252567.1, RCV000280696.1, RCV000307278.1, RCV000310337.1, RCV000313972.1, RCV000335127.1, RCV000339153.1, RCV000350197.1, RCV000375103.1, RCV000393593.1, RCV000398387.1, |
[PMID 15637659
] Linkage disequilibrium patterns and tagSNP transferability among European populations.
[PMID 16262891] Aging syndrome genes and premature coronary artery disease.
[PMID 17327437] Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population: studies of 7,495 Danish whites.
[PMID 17327460] Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects.
[PMID 17327461] Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.
[PMID 17994215] Evaluating the association of common LMNA variants with type 2 diabetes and quantitative metabolic phenotypes in French Europids.
[PMID 20501691] LMNA rs4641 and the muscle lamin A and C isoforms in twins--metabolic implications and transcriptional regulation.
[PMID 24831476] [Association between LMNA mutation and familial and idiopathic dilated cardiomyopathy patients in Xinjiang]
[PMID 26634508] Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy.
