rs58672172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs58672172(C;T) |
Make rs58672172(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156136251 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs58672172 |
dbSNP (classic) | rs58672172 |
ClinGen | rs58672172 |
ebi | rs58672172 |
HLI | rs58672172 |
Exac | rs58672172 |
Gnomad | rs58672172 |
Varsome | rs58672172 |
LitVar | rs58672172 |
Map | rs58672172 |
PheGenI | rs58672172 |
Biobank | rs58672172 |
1000 genomes | rs58672172 |
hgdp | rs58672172 |
ensembl | rs58672172 |
geneview | rs58672172 |
scholar | rs58672172 |
rs58672172 | |
pharmgkb | rs58672172 |
gwascentral | rs58672172 |
openSNP | rs58672172 |
23andMe | rs58672172 |
SNPshot | rs58672172 |
SNPdbe | rs58672172 |
MSV3d | rs58672172 |
GWAS Ctlg | rs58672172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs58672172(T;T) |
Alt | rs58672172(T;T) |
Reference | Rs58672172(C;C) |
Significance | Pathogenic |
Disease | Familial partial lipodystrophy 2 not provided not specified |
Variation | info |
Gene | LMNA |
CLNDBN | Familial partial lipodystrophy 2 not provided not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.156106042C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015616.26, RCV000057255.3, RCV000212505.1, |