rs864309525
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGG;AGG) | 0 | common in clinvar |
(GAG;GAG) | 0 | common/normal |
Make rs864309525(-;-) |
Make rs864309525(-;GAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 156115009 |
Gene | LMNA |
is a | snp |
is | mentioned by |
dbSNP | rs864309525 |
dbSNP (classic) | rs864309525 |
ClinGen | rs864309525 |
ebi | rs864309525 |
HLI | rs864309525 |
Exac | rs864309525 |
Gnomad | rs864309525 |
Varsome | rs864309525 |
LitVar | rs864309525 |
Map | rs864309525 |
PheGenI | rs864309525 |
Biobank | rs864309525 |
1000 genomes | rs864309525 |
hgdp | rs864309525 |
ensembl | rs864309525 |
geneview | rs864309525 |
scholar | rs864309525 |
rs864309525 | |
pharmgkb | rs864309525 |
gwascentral | rs864309525 |
openSNP | rs864309525 |
23andMe | rs864309525 |
SNPshot | rs864309525 |
SNPdbe | rs864309525 |
MSV3d | rs864309525 |
GWAS Ctlg | rs864309525 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864309525(-;-) |
Alt | rs864309525(-;-) |
Reference | Rs864309525(AGG;AGG) |
Significance | Probable-Pathogenic |
Disease | Congenital muscular dystrophy |
Variation | info |
Gene | LMNA |
CLNDBN | Congenital muscular dystrophy, LMNA-related |
Reversed | 0 |
HGVS | NC_000001.10:g.156084800_156084802delGAG |
CLNSRC | |
CLNACC | RCV000202605.1, |