rs398124172
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAATAAACGAG;AAATAAACGAG) | 0 | common in clinvar |
Make rs398124172(-;-) |
Make rs398124172(-;AAATAAACGAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 151643269 |
Gene | NEB |
is a | snp |
is | mentioned by |
dbSNP | rs398124172 |
dbSNP (classic) | rs398124172 |
ClinGen | rs398124172 |
ebi | rs398124172 |
HLI | rs398124172 |
Exac | rs398124172 |
Gnomad | rs398124172 |
Varsome | rs398124172 |
LitVar | rs398124172 |
Map | rs398124172 |
PheGenI | rs398124172 |
Biobank | rs398124172 |
1000 genomes | rs398124172 |
hgdp | rs398124172 |
ensembl | rs398124172 |
geneview | rs398124172 |
scholar | rs398124172 |
rs398124172 | |
pharmgkb | rs398124172 |
gwascentral | rs398124172 |
openSNP | rs398124172 |
23andMe | rs398124172 |
SNPshot | rs398124172 |
SNPdbe | rs398124172 |
MSV3d | rs398124172 |
GWAS Ctlg | rs398124172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124172(-;-) |
Alt | rs398124172(-;-) |
Reference | Rs398124172(AAATAAACGAG;AAATAAACGAG) |
Significance | Other |
Disease | not provided Nemaline myopathy 2 |
Variation | info |
Gene | NEB |
CLNDBN | not provided Nemaline myopathy 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.152499783_152499793delCTCGTTTATTT |
CLNSRC | HGMD |
CLNACC | RCV000081144.3, RCV000179210.1, |