rs113379223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113379223(A;A) |
Make rs113379223(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 38460374 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs113379223 |
dbSNP (classic) | rs113379223 |
ClinGen | rs113379223 |
ebi | rs113379223 |
HLI | rs113379223 |
Exac | rs113379223 |
Gnomad | rs113379223 |
Varsome | rs113379223 |
LitVar | rs113379223 |
Map | rs113379223 |
PheGenI | rs113379223 |
Biobank | rs113379223 |
1000 genomes | rs113379223 |
hgdp | rs113379223 |
ensembl | rs113379223 |
geneview | rs113379223 |
scholar | rs113379223 |
rs113379223 | |
pharmgkb | rs113379223 |
gwascentral | rs113379223 |
openSNP | rs113379223 |
23andMe | rs113379223 |
SNPshot | rs113379223 |
SNPdbe | rs113379223 |
MSV3d | rs113379223 |
GWAS Ctlg | rs113379223 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113379223(A;A) rs113379223(C;C) rs113379223(T;T) |
Alt | rs113379223(A;A) rs113379223(C;C) rs113379223(T;T) |
Reference | Rs113379223(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.38951014G>C |
CLNSRC | |
CLNACC | RCV000478215.1, |