rs113460156
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113460156(C;C) |
Make rs113460156(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 38473772 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs113460156 |
dbSNP (classic) | rs113460156 |
ClinGen | rs113460156 |
ebi | rs113460156 |
HLI | rs113460156 |
Exac | rs113460156 |
Gnomad | rs113460156 |
Varsome | rs113460156 |
LitVar | rs113460156 |
Map | rs113460156 |
PheGenI | rs113460156 |
Biobank | rs113460156 |
1000 genomes | rs113460156 |
hgdp | rs113460156 |
ensembl | rs113460156 |
geneview | rs113460156 |
scholar | rs113460156 |
rs113460156 | |
pharmgkb | rs113460156 |
gwascentral | rs113460156 |
openSNP | rs113460156 |
23andMe | rs113460156 |
SNPshot | rs113460156 |
SNPdbe | rs113460156 |
MSV3d | rs113460156 |
GWAS Ctlg | rs113460156 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113460156(A;A) rs113460156(C;C) |
Alt | rs113460156(A;A) rs113460156(C;C) |
Reference | Rs113460156(G;G) |
Significance | Probable-Pathogenic |
Disease | Muscular hypotonia |
Variation | info |
Gene | RYR1 |
CLNDBN | Muscular hypotonia |
Reversed | 0 |
HGVS | NC_000019.9:g.38964412G>A |
CLNSRC | |
CLNACC | RCV000490681.1, |