rs6735208
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 |
Make rs6735208(A;T) |
Make rs6735208(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 151679984 |
Gene | NEB |
is a | snp |
is | mentioned by |
dbSNP | rs6735208 |
dbSNP (classic) | rs6735208 |
ClinGen | rs6735208 |
ebi | rs6735208 |
HLI | rs6735208 |
Exac | rs6735208 |
Gnomad | rs6735208 |
Varsome | rs6735208 |
LitVar | rs6735208 |
Map | rs6735208 |
PheGenI | rs6735208 |
Biobank | rs6735208 |
1000 genomes | rs6735208 |
hgdp | rs6735208 |
ensembl | rs6735208 |
geneview | rs6735208 |
scholar | rs6735208 |
rs6735208 | |
pharmgkb | rs6735208 |
gwascentral | rs6735208 |
openSNP | rs6735208 |
23andMe | rs6735208 |
SNPshot | rs6735208 |
SNPdbe | rs6735208 |
MSV3d | rs6735208 |
GWAS Ctlg | rs6735208 |
GMAF | 0.3811 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs6735208(A;A) |
Alt | Rs6735208(A;A) |
Reference | rs6735208(T;T) |
Significance | Other |
Disease | not specified Nemaline Myopathy |
Variation | info |
Gene | NEB |
CLNDBN | not specified Nemaline Myopathy, Recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.152536498T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081134.10, RCV000265121.1, |