rs57920071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs57920071(C;T) |
Make rs57920071(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 156136984 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs57920071 |
dbSNP (classic) | rs57920071 |
ClinGen | rs57920071 |
ebi | rs57920071 |
HLI | rs57920071 |
Exac | rs57920071 |
Gnomad | rs57920071 |
Varsome | rs57920071 |
LitVar | rs57920071 |
Map | rs57920071 |
PheGenI | rs57920071 |
Biobank | rs57920071 |
1000 genomes | rs57920071 |
hgdp | rs57920071 |
ensembl | rs57920071 |
geneview | rs57920071 |
scholar | rs57920071 |
rs57920071 | |
pharmgkb | rs57920071 |
gwascentral | rs57920071 |
openSNP | rs57920071 |
23andMe | rs57920071 |
SNPshot | rs57920071 |
SNPdbe | rs57920071 |
MSV3d | rs57920071 |
GWAS Ctlg | rs57920071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs57920071(T;T) |
Alt | rs57920071(T;T) |
Reference | Rs57920071(C;C) |
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.156106775C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015579.28, RCV000057298.1, |