rs794727136
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs794727136(-;-) |
Make rs794727136(-;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 151493781 |
Gene | NEB, RIF1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727136 |
dbSNP (classic) | rs794727136 |
ClinGen | rs794727136 |
ebi | rs794727136 |
HLI | rs794727136 |
Exac | rs794727136 |
Gnomad | rs794727136 |
Varsome | rs794727136 |
LitVar | rs794727136 |
Map | rs794727136 |
PheGenI | rs794727136 |
Biobank | rs794727136 |
1000 genomes | rs794727136 |
hgdp | rs794727136 |
ensembl | rs794727136 |
geneview | rs794727136 |
scholar | rs794727136 |
rs794727136 | |
pharmgkb | rs794727136 |
gwascentral | rs794727136 |
openSNP | rs794727136 |
23andMe | rs794727136 |
SNPshot | rs794727136 |
SNPdbe | rs794727136 |
MSV3d | rs794727136 |
GWAS Ctlg | rs794727136 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727136(-;-) |
Alt | rs794727136(-;-) |
Reference | Rs794727136(TT;TT) |
Significance | Pathogenic |
Disease | Nemaline myopathy 2 Inborn genetic diseases |
Variation | info |
Gene | LOC101929336 NEB |
CLNDBN | Nemaline myopathy 2 Inborn genetic diseases |
Reversed | 1 |
HGVS | NC_000002.11:g.152350295_152350296delAA |
CLNSRC | |
CLNACC | RCV000174822.1, RCV000190735.1, |