rs118192151
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118192151(A;A) |
Make rs118192151(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38584974 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs118192151 |
dbSNP (classic) | rs118192151 |
ClinGen | rs118192151 |
ebi | rs118192151 |
HLI | rs118192151 |
Exac | rs118192151 |
Gnomad | rs118192151 |
Varsome | rs118192151 |
LitVar | rs118192151 |
Map | rs118192151 |
PheGenI | rs118192151 |
Biobank | rs118192151 |
1000 genomes | rs118192151 |
hgdp | rs118192151 |
ensembl | rs118192151 |
geneview | rs118192151 |
scholar | rs118192151 |
rs118192151 | |
pharmgkb | rs118192151 |
gwascentral | rs118192151 |
openSNP | rs118192151 |
23andMe | rs118192151 |
SNPshot | rs118192151 |
SNPdbe | rs118192151 |
MSV3d | rs118192151 |
GWAS Ctlg | rs118192151 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192151(A;A) rs118192151(C;C) |
Alt | rs118192151(A;A) rs118192151(C;C) |
Reference | Rs118192151(G;G) |
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.39075614G>A; NC_000019.9:g.39075614G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000056235.1, RCV000119546.1, RCV000056234.1, RCV000119547.1, |