rs886042171
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCCAGAAATCCAGT;TCCAGAAATCCAGT) | 0 | common in clinvar |
Chromosome | 19 |
Position | 38561145 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs886042171 |
dbSNP (classic) | rs886042171 |
ClinGen | rs886042171 |
ebi | rs886042171 |
HLI | rs886042171 |
Exac | rs886042171 |
Gnomad | rs886042171 |
Varsome | rs886042171 |
LitVar | rs886042171 |
Map | rs886042171 |
PheGenI | rs886042171 |
Biobank | rs886042171 |
1000 genomes | rs886042171 |
hgdp | rs886042171 |
ensembl | rs886042171 |
geneview | rs886042171 |
scholar | rs886042171 |
rs886042171 | |
pharmgkb | rs886042171 |
gwascentral | rs886042171 |
openSNP | rs886042171 |
23andMe | rs886042171 |
SNPshot | rs886042171 |
SNPdbe | rs886042171 |
MSV3d | rs886042171 |
GWAS Ctlg | rs886042171 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042171(-;-) |
Alt | rs886042171(-;-) |
Reference | Rs886042171(TCCAGAAATCCAGT;TCCAGAAATCCAGT) |
Significance | Pathogenic |
Disease | Central core disease Malignant hyperthermia |
Variation | info |
Gene | RYR1 |
CLNDBN | Central core disease Malignant hyperthermia, susceptibility to, 1 |
Reversed | 0 |
HGVS | NC_000019.9:g.39051785_39051798delAGAAATCCAGTTCC |
CLNSRC | |
CLNACC | RCV000308112.1, RCV000344236.1, |