rs267607599
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267607599(A;G) |
Make rs267607599(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 156136422 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607599 |
dbSNP (classic) | rs267607599 |
ClinGen | rs267607599 |
ebi | rs267607599 |
HLI | rs267607599 |
Exac | rs267607599 |
Gnomad | rs267607599 |
Varsome | rs267607599 |
LitVar | rs267607599 |
Map | rs267607599 |
PheGenI | rs267607599 |
Biobank | rs267607599 |
1000 genomes | rs267607599 |
hgdp | rs267607599 |
ensembl | rs267607599 |
geneview | rs267607599 |
scholar | rs267607599 |
rs267607599 | |
pharmgkb | rs267607599 |
gwascentral | rs267607599 |
openSNP | rs267607599 |
23andMe | rs267607599 |
SNPshot | rs267607599 |
SNPdbe | rs267607599 |
MSV3d | rs267607599 |
GWAS Ctlg | rs267607599 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607599(G;G) |
Alt | rs267607599(G;G) |
Reference | Rs267607599(A;A) |
Significance | Pathogenic |
Disease | not provided Charcot-Marie-Tooth disease |
Variation | info |
Gene | LMNA |
CLNDBN | not provided Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.156106213A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057277.1, RCV000465598.1, |