rs6713162
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 0 |
Make rs6713162(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 151640012 |
Gene | NEB |
is a | snp |
is | mentioned by |
dbSNP | rs6713162 |
dbSNP (classic) | rs6713162 |
ClinGen | rs6713162 |
ebi | rs6713162 |
HLI | rs6713162 |
Exac | rs6713162 |
Gnomad | rs6713162 |
Varsome | rs6713162 |
LitVar | rs6713162 |
Map | rs6713162 |
PheGenI | rs6713162 |
Biobank | rs6713162 |
1000 genomes | rs6713162 |
hgdp | rs6713162 |
ensembl | rs6713162 |
geneview | rs6713162 |
scholar | rs6713162 |
rs6713162 | |
pharmgkb | rs6713162 |
gwascentral | rs6713162 |
openSNP | rs6713162 |
23andMe | rs6713162 |
SNPshot | rs6713162 |
SNPdbe | rs6713162 |
MSV3d | rs6713162 |
GWAS Ctlg | rs6713162 |
GMAF | 0.4151 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs6713162(G;G) |
Alt | rs6713162(G;G) |
Reference | Rs6713162(A;A) |
Significance | Other |
Disease | not specified Nemaline Myopathy |
Variation | info |
Gene | NEB |
CLNDBN | not specified Nemaline Myopathy, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.152496526A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000117776.5, RCV000383498.1, |