rs267607547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267607547(C;C) |
Make rs267607547(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156137664 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607547 |
dbSNP (classic) | rs267607547 |
ClinGen | rs267607547 |
ebi | rs267607547 |
HLI | rs267607547 |
Exac | rs267607547 |
Gnomad | rs267607547 |
Varsome | rs267607547 |
LitVar | rs267607547 |
Map | rs267607547 |
PheGenI | rs267607547 |
Biobank | rs267607547 |
1000 genomes | rs267607547 |
hgdp | rs267607547 |
ensembl | rs267607547 |
geneview | rs267607547 |
scholar | rs267607547 |
rs267607547 | |
pharmgkb | rs267607547 |
gwascentral | rs267607547 |
openSNP | rs267607547 |
23andMe | rs267607547 |
SNPshot | rs267607547 |
SNPdbe | rs267607547 |
MSV3d | rs267607547 |
GWAS Ctlg | rs267607547 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607547(C;C) |
Alt | rs267607547(C;C) |
Reference | Rs267607547(T;T) |
Significance | Pathogenic |
Disease | not provided Hutchinson-Gilford syndrome |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Hutchinson-Gilford syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.156107455T>C |
CLNSRC | |
CLNACC | RCV000057340.1, RCV000192012.1, |