rs267607617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267607617(C;T) |
Make rs267607617(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 156136027 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs267607617 |
dbSNP (classic) | rs267607617 |
ClinGen | rs267607617 |
ebi | rs267607617 |
HLI | rs267607617 |
Exac | rs267607617 |
Gnomad | rs267607617 |
Varsome | rs267607617 |
LitVar | rs267607617 |
Map | rs267607617 |
PheGenI | rs267607617 |
Biobank | rs267607617 |
1000 genomes | rs267607617 |
hgdp | rs267607617 |
ensembl | rs267607617 |
geneview | rs267607617 |
scholar | rs267607617 |
rs267607617 | |
pharmgkb | rs267607617 |
gwascentral | rs267607617 |
openSNP | rs267607617 |
23andMe | rs267607617 |
SNPshot | rs267607617 |
SNPdbe | rs267607617 |
MSV3d | rs267607617 |
GWAS Ctlg | rs267607617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607617(G;G) rs267607617(T;T) |
Alt | rs267607617(G;G) rs267607617(T;T) |
Reference | Rs267607617(C;C) |
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.156105818C>T |
CLNSRC | |
CLNACC | RCV000057223.1, RCV000233611.2, |