rs111436401
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111436401(A;A) |
Make rs111436401(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 38523116 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs111436401 |
dbSNP (classic) | rs111436401 |
ClinGen | rs111436401 |
ebi | rs111436401 |
HLI | rs111436401 |
Exac | rs111436401 |
Gnomad | rs111436401 |
Varsome | rs111436401 |
LitVar | rs111436401 |
Map | rs111436401 |
PheGenI | rs111436401 |
Biobank | rs111436401 |
1000 genomes | rs111436401 |
hgdp | rs111436401 |
ensembl | rs111436401 |
geneview | rs111436401 |
scholar | rs111436401 |
rs111436401 | |
pharmgkb | rs111436401 |
gwascentral | rs111436401 |
openSNP | rs111436401 |
23andMe | rs111436401 |
SNPshot | rs111436401 |
SNPdbe | rs111436401 |
MSV3d | rs111436401 |
GWAS Ctlg | rs111436401 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111436401(A;A) |
Alt | rs111436401(A;A) |
Reference | Rs111436401(G;G) |
Significance | Probable-Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | RYR1 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000019.9:g.39013756G>A |
CLNSRC | |
CLNACC | RCV000210710.1, |