rs193922807
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 3 | susceptibility to malignant hyperthermia |
(G;G) | 0 | common |
Make rs193922807(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38499731 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922807 |
dbSNP (classic) | rs193922807 |
ClinGen | rs193922807 |
ebi | rs193922807 |
HLI | rs193922807 |
Exac | rs193922807 |
Gnomad | rs193922807 |
Varsome | rs193922807 |
LitVar | rs193922807 |
Map | rs193922807 |
PheGenI | rs193922807 |
Biobank | rs193922807 |
1000 genomes | rs193922807 |
hgdp | rs193922807 |
ensembl | rs193922807 |
geneview | rs193922807 |
scholar | rs193922807 |
rs193922807 | |
pharmgkb | rs193922807 |
gwascentral | rs193922807 |
openSNP | rs193922807 |
23andMe | rs193922807 |
SNPshot | rs193922807 |
SNPdbe | rs193922807 |
MSV3d | rs193922807 |
GWAS Ctlg | rs193922807 |
Max Magnitude | 3 |
rs193922807, aka p.Gly2375Ala or p.G2375A, is a SNP in the RYR1 gene considered causative for malignant hyperthermia.
23andMe name: i5000017
ClinVar | |
---|---|
Risk | rs193922807(C;C) |
Alt | rs193922807(C;C) |
Reference | Rs193922807(G;G) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.38990371G>C |
CLNSRC | ClinVar |
CLNACC | RCV000119690.1, |