rs267607543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607543(C;C) |
Make rs267607543(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156137033 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607543 |
dbSNP (classic) | rs267607543 |
ClinGen | rs267607543 |
ebi | rs267607543 |
HLI | rs267607543 |
Exac | rs267607543 |
Gnomad | rs267607543 |
Varsome | rs267607543 |
LitVar | rs267607543 |
Map | rs267607543 |
PheGenI | rs267607543 |
Biobank | rs267607543 |
1000 genomes | rs267607543 |
hgdp | rs267607543 |
ensembl | rs267607543 |
geneview | rs267607543 |
scholar | rs267607543 |
rs267607543 | |
pharmgkb | rs267607543 |
gwascentral | rs267607543 |
openSNP | rs267607543 |
23andMe | rs267607543 |
SNPshot | rs267607543 |
SNPdbe | rs267607543 |
MSV3d | rs267607543 |
GWAS Ctlg | rs267607543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607543(A;A) rs267607543(C;C) |
Alt | rs267607543(A;A) rs267607543(C;C) |
Reference | Rs267607543(G;G) |
Significance | Pathogenic |
Disease | not provided Familial partial lipodystrophy 2 |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Familial partial lipodystrophy 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156106824G>A; NC_000001.10:g.156106824G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000057306.1, RCV000015610.27, RCV000057307.1, |