rs143849895
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143849895(A;A) |
Make rs143849895(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 38566953 |
Gene | RYR1 |
is a | snp |
is | mentioned by |
dbSNP | rs143849895 |
dbSNP (classic) | rs143849895 |
ClinGen | rs143849895 |
ebi | rs143849895 |
HLI | rs143849895 |
Exac | rs143849895 |
Gnomad | rs143849895 |
Varsome | rs143849895 |
LitVar | rs143849895 |
Map | rs143849895 |
PheGenI | rs143849895 |
Biobank | rs143849895 |
1000 genomes | rs143849895 |
hgdp | rs143849895 |
ensembl | rs143849895 |
geneview | rs143849895 |
scholar | rs143849895 |
rs143849895 | |
pharmgkb | rs143849895 |
gwascentral | rs143849895 |
openSNP | rs143849895 |
23andMe | rs143849895 |
SNPshot | rs143849895 |
SNPdbe | rs143849895 |
MSV3d | rs143849895 |
GWAS Ctlg | rs143849895 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143849895(A;A) rs143849895(C;C) rs143849895(T;T) |
Alt | rs143849895(A;A) rs143849895(C;C) rs143849895(T;T) |
Reference | Rs143849895(G;G) |
Significance | Pathogenic |
Disease | Congenital myopathy with fiber type disproportion |
Variation | info |
Gene | RYR1 |
CLNDBN | Congenital myopathy with fiber type disproportion |
Reversed | 0 |
HGVS | NC_000019.9:g.39057593G>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034927.1, |
[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.