rs199476408
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199476408(C;T) |
Make rs199476408(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 68165803 |
Gene | MYPN |
is a | snp |
is | mentioned by |
dbSNP | rs199476408 |
dbSNP (classic) | rs199476408 |
ClinGen | rs199476408 |
ebi | rs199476408 |
HLI | rs199476408 |
Exac | rs199476408 |
Gnomad | rs199476408 |
Varsome | rs199476408 |
LitVar | rs199476408 |
Map | rs199476408 |
PheGenI | rs199476408 |
Biobank | rs199476408 |
1000 genomes | rs199476408 |
hgdp | rs199476408 |
ensembl | rs199476408 |
geneview | rs199476408 |
scholar | rs199476408 |
rs199476408 | |
pharmgkb | rs199476408 |
gwascentral | rs199476408 |
openSNP | rs199476408 |
23andMe | rs199476408 |
SNPshot | rs199476408 |
SNPdbe | rs199476408 |
MSV3d | rs199476408 |
GWAS Ctlg | rs199476408 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199476408(T;T) |
Alt | rs199476408(T;T) |
Reference | Rs199476408(C;C) |
Significance | Pathogenic |
Disease | not provided Cardiomyopathy |
Variation | info |
Gene | MYPN |
CLNDBN | not provided Cardiomyopathy, familial restrictive, 4 |
Reversed | 0 |
HGVS | NC_000010.10:g.69925560C>T |
CLNSRC | Leiden Muscular Dystrophy pages (MYPN) OMIM Allelic Variant |
CLNACC | RCV000024509.1, RCV000043547.4, |
[PMID 22286171] Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.