rs60890628
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs60890628(C;T) |
Make rs60890628(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156138507 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs60890628 |
dbSNP (classic) | rs60890628 |
ClinGen | rs60890628 |
ebi | rs60890628 |
HLI | rs60890628 |
Exac | rs60890628 |
Gnomad | rs60890628 |
Varsome | rs60890628 |
LitVar | rs60890628 |
Map | rs60890628 |
PheGenI | rs60890628 |
Biobank | rs60890628 |
1000 genomes | rs60890628 |
hgdp | rs60890628 |
ensembl | rs60890628 |
geneview | rs60890628 |
scholar | rs60890628 |
rs60890628 | |
pharmgkb | rs60890628 |
gwascentral | rs60890628 |
openSNP | rs60890628 |
23andMe | rs60890628 |
SNPshot | rs60890628 |
SNPdbe | rs60890628 |
MSV3d | rs60890628 |
GWAS Ctlg | rs60890628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs60890628(T;T) |
Alt | rs60890628(T;T) |
Reference | Rs60890628(C;C) |
Significance | Pathogenic |
Disease | Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy 2 not specified not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy, atypical Familial partial lipodystrophy 2 not specified not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156108298C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015612.26, RCV000015613.26, RCV000015614.22, RCV000041329.3, RCV000057351.1, |