rs398124246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124246(C;C) |
Make rs398124246(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 131508935 |
Gene | POMT1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124246 |
dbSNP (classic) | rs398124246 |
ClinGen | rs398124246 |
ebi | rs398124246 |
HLI | rs398124246 |
Exac | rs398124246 |
Gnomad | rs398124246 |
Varsome | rs398124246 |
LitVar | rs398124246 |
Map | rs398124246 |
PheGenI | rs398124246 |
Biobank | rs398124246 |
1000 genomes | rs398124246 |
hgdp | rs398124246 |
ensembl | rs398124246 |
geneview | rs398124246 |
scholar | rs398124246 |
rs398124246 | |
pharmgkb | rs398124246 |
gwascentral | rs398124246 |
openSNP | rs398124246 |
23andMe | rs398124246 |
SNPshot | rs398124246 |
SNPdbe | rs398124246 |
MSV3d | rs398124246 |
GWAS Ctlg | rs398124246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124246(C;C) |
Alt | rs398124246(C;C) |
Reference | Rs398124246(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | POMT1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.134384322G>C |
CLNSRC | |
CLNACC | RCV000081491.5, |