rs786204576
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GT;GT) | 0 | common in clinvar |
Make rs786204576(GT;TG) |
Make rs786204576(TG;TG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 151674475 |
Gene | NEB |
is a | snp |
is | mentioned by |
dbSNP | rs786204576 |
dbSNP (classic) | rs786204576 |
ClinGen | rs786204576 |
ebi | rs786204576 |
HLI | rs786204576 |
Exac | rs786204576 |
Gnomad | rs786204576 |
Varsome | rs786204576 |
LitVar | rs786204576 |
Map | rs786204576 |
PheGenI | rs786204576 |
Biobank | rs786204576 |
1000 genomes | rs786204576 |
hgdp | rs786204576 |
ensembl | rs786204576 |
geneview | rs786204576 |
scholar | rs786204576 |
rs786204576 | |
pharmgkb | rs786204576 |
gwascentral | rs786204576 |
openSNP | rs786204576 |
23andMe | rs786204576 |
SNPshot | rs786204576 |
SNPdbe | rs786204576 |
MSV3d | rs786204576 |
GWAS Ctlg | rs786204576 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204576(TG;TG) |
Alt | rs786204576(TG;TG) |
Reference | Rs786204576(GT;GT) |
Significance | Pathogenic |
Disease | Nemaline myopathy 2 not provided |
Variation | info |
Gene | NEB |
CLNDBN | Nemaline myopathy 2 not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.152530989_152530990delACinsCA |
CLNSRC | |
CLNACC | RCV000169318.1, RCV000493120.1, |