rs199474663
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199474663(A;G) |
Make rs199474663(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 3260 |
is a | snp |
is | mentioned by |
dbSNP | rs199474663 |
dbSNP (classic) | rs199474663 |
ClinGen | rs199474663 |
ebi | rs199474663 |
HLI | rs199474663 |
Exac | rs199474663 |
Gnomad | rs199474663 |
Varsome | rs199474663 |
LitVar | rs199474663 |
Map | rs199474663 |
PheGenI | rs199474663 |
Biobank | rs199474663 |
1000 genomes | rs199474663 |
hgdp | rs199474663 |
ensembl | rs199474663 |
geneview | rs199474663 |
scholar | rs199474663 |
rs199474663 | |
pharmgkb | rs199474663 |
gwascentral | rs199474663 |
openSNP | rs199474663 |
23andMe | rs199474663 |
SNPshot | rs199474663 |
SNPdbe | rs199474663 |
MSV3d | rs199474663 |
GWAS Ctlg | rs199474663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199474663(G;G) |
Alt | rs199474663(G;G) |
Reference | Rs199474663(A;A) |
Significance | Pathogenic |
Disease | Cardiomyopathy with or without skeletal myopathy |
Variation | info |
Gene | |
CLNDBN | Cardiomyopathy with or without skeletal myopathy |
Reversed | 0 |
HGVS | NC_012920.1:m.3260A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010219.2, |