rs193922876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | malignant hyperthermia |
Make rs193922876(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 38580114 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922876 |
dbSNP (classic) | rs193922876 |
ClinGen | rs193922876 |
ebi | rs193922876 |
HLI | rs193922876 |
Exac | rs193922876 |
Gnomad | rs193922876 |
Varsome | rs193922876 |
LitVar | rs193922876 |
Map | rs193922876 |
PheGenI | rs193922876 |
Biobank | rs193922876 |
1000 genomes | rs193922876 |
hgdp | rs193922876 |
ensembl | rs193922876 |
geneview | rs193922876 |
scholar | rs193922876 |
rs193922876 | |
pharmgkb | rs193922876 |
gwascentral | rs193922876 |
openSNP | rs193922876 |
23andMe | rs193922876 |
SNPshot | rs193922876 |
SNPdbe | rs193922876 |
MSV3d | rs193922876 |
GWAS Ctlg | rs193922876 |
Max Magnitude | 3 |
aka c.14497C>T (p.His4833Tyr or H4833Y)
23andMe name: i6017652
ClinVar | |
---|---|
Risk | rs193922876(T;T) |
Alt | rs193922876(T;T) |
Reference | Rs193922876(C;C) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | RYR1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.39070754C>T |
CLNSRC | |
CLNACC | RCV000119521.1, |