rs60580541
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs60580541(C;T) |
Make rs60580541(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156137210 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs60580541 |
dbSNP (classic) | rs60580541 |
ClinGen | rs60580541 |
ebi | rs60580541 |
HLI | rs60580541 |
Exac | rs60580541 |
Gnomad | rs60580541 |
Varsome | rs60580541 |
LitVar | rs60580541 |
Map | rs60580541 |
PheGenI | rs60580541 |
Biobank | rs60580541 |
1000 genomes | rs60580541 |
hgdp | rs60580541 |
ensembl | rs60580541 |
geneview | rs60580541 |
scholar | rs60580541 |
rs60580541 | |
pharmgkb | rs60580541 |
gwascentral | rs60580541 |
openSNP | rs60580541 |
23andMe | rs60580541 |
SNPshot | rs60580541 |
SNPdbe | rs60580541 |
MSV3d | rs60580541 |
GWAS Ctlg | rs60580541 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60580541(T;T) |
Alt | rs60580541(T;T) |
Reference | Rs60580541(C;C) |
Significance | Pathogenic |
Disease | Mandibuloacral dysostosis not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Mandibuloacral dysostosis not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156107001C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015608.25, RCV000057332.1, |