rs57830985
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs57830985(A;A) |
Make rs57830985(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156138534 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs57830985 |
dbSNP (classic) | rs57830985 |
ClinGen | rs57830985 |
ebi | rs57830985 |
HLI | rs57830985 |
Exac | rs57830985 |
Gnomad | rs57830985 |
Varsome | rs57830985 |
LitVar | rs57830985 |
Map | rs57830985 |
PheGenI | rs57830985 |
Biobank | rs57830985 |
1000 genomes | rs57830985 |
hgdp | rs57830985 |
ensembl | rs57830985 |
geneview | rs57830985 |
scholar | rs57830985 |
rs57830985 | |
pharmgkb | rs57830985 |
gwascentral | rs57830985 |
openSNP | rs57830985 |
23andMe | rs57830985 |
SNPshot | rs57830985 |
SNPdbe | rs57830985 |
MSV3d | rs57830985 |
GWAS Ctlg | rs57830985 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57830985(A;A) |
Alt | rs57830985(A;A) |
Reference | Rs57830985(G;G) |
Significance | Pathogenic |
Disease | Familial partial lipodystrophy 2 not provided |
Variation | info |
Gene | LMNA |
CLNDBN | Familial partial lipodystrophy 2 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.156108325G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015585.25, RCV000057353.1, |