rs118192121
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs118192121(A;C) |
Make rs118192121(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38496910 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192121 |
dbSNP (classic) | rs118192121 |
ClinGen | rs118192121 |
ebi | rs118192121 |
HLI | rs118192121 |
Exac | rs118192121 |
Gnomad | rs118192121 |
Varsome | rs118192121 |
LitVar | rs118192121 |
Map | rs118192121 |
PheGenI | rs118192121 |
Biobank | rs118192121 |
1000 genomes | rs118192121 |
hgdp | rs118192121 |
ensembl | rs118192121 |
geneview | rs118192121 |
scholar | rs118192121 |
rs118192121 | |
pharmgkb | rs118192121 |
gwascentral | rs118192121 |
openSNP | rs118192121 |
23andMe | rs118192121 |
SNPshot | rs118192121 |
SNPdbe | rs118192121 |
MSV3d | rs118192121 |
GWAS Ctlg | rs118192121 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192121(C;C) |
Alt | rs118192121(C;C) |
Reference | Rs118192121(A;A) |
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.38987550A>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000056215.1, RCV000119671.1, |