rs775180716
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs775180716(C;T) |
Make rs775180716(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 10 |
Position | 86692544 |
Gene | LDB3 |
is a | snp |
is | mentioned by |
dbSNP | rs775180716 |
dbSNP (classic) | rs775180716 |
ClinGen | rs775180716 |
ebi | rs775180716 |
HLI | rs775180716 |
Exac | rs775180716 |
Gnomad | rs775180716 |
Varsome | rs775180716 |
LitVar | rs775180716 |
Map | rs775180716 |
PheGenI | rs775180716 |
Biobank | rs775180716 |
1000 genomes | rs775180716 |
hgdp | rs775180716 |
ensembl | rs775180716 |
geneview | rs775180716 |
scholar | rs775180716 |
rs775180716 | |
pharmgkb | rs775180716 |
gwascentral | rs775180716 |
openSNP | rs775180716 |
23andMe | rs775180716 |
SNPshot | rs775180716 |
SNPdbe | rs775180716 |
MSV3d | rs775180716 |
GWAS Ctlg | rs775180716 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775180716(T;T) |
Alt | rs775180716(T;T) |
Reference | Rs775180716(C;C) |
Significance | Pathogenic |
Disease | Myofibrillar myopathy |
Variation | info |
Gene | LDB3 |
CLNDBN | Myofibrillar myopathy |
Reversed | 0 |
HGVS | NC_000010.10:g.88452301C>T |
CLNSRC | |
CLNACC | RCV000239712.1, |