rs193922893
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTCATC;GTCATC) | 0 | common in clinvar |
(TCGTCA;TCGTCA) | 0 | common in clinvar |
Make rs193922893(-;-) |
Make rs193922893(-;GTCATC) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38585075 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922893 |
dbSNP (classic) | rs193922893 |
ClinGen | rs193922893 |
ebi | rs193922893 |
HLI | rs193922893 |
Exac | rs193922893 |
Gnomad | rs193922893 |
Varsome | rs193922893 |
LitVar | rs193922893 |
Map | rs193922893 |
PheGenI | rs193922893 |
Biobank | rs193922893 |
1000 genomes | rs193922893 |
hgdp | rs193922893 |
ensembl | rs193922893 |
geneview | rs193922893 |
scholar | rs193922893 |
rs193922893 | |
pharmgkb | rs193922893 |
gwascentral | rs193922893 |
openSNP | rs193922893 |
23andMe | rs193922893 |
SNPshot | rs193922893 |
SNPdbe | rs193922893 |
MSV3d | rs193922893 |
GWAS Ctlg | rs193922893 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922893(-;-) |
Alt | rs193922893(-;-) |
Reference | Rs193922893(TCGTCA;TCGTCA) |
Significance | Pathogenic |
Disease | Central core disease not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | Central core disease not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.39075715_39075720delGTCATC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056248.1, RCV000119562.1, |