rs397516399
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
(G;G) | 0 | common in clinvar |
Make rs397516399(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 110914200 |
Gene | MYL2 |
is a | snp |
is | mentioned by |
dbSNP | rs397516399 |
dbSNP (classic) | rs397516399 |
ClinGen | rs397516399 |
ebi | rs397516399 |
HLI | rs397516399 |
Exac | rs397516399 |
Gnomad | rs397516399 |
Varsome | rs397516399 |
LitVar | rs397516399 |
Map | rs397516399 |
PheGenI | rs397516399 |
Biobank | rs397516399 |
1000 genomes | rs397516399 |
hgdp | rs397516399 |
ensembl | rs397516399 |
geneview | rs397516399 |
scholar | rs397516399 |
rs397516399 | |
pharmgkb | rs397516399 |
gwascentral | rs397516399 |
openSNP | rs397516399 |
23andMe | rs397516399 |
SNPshot | rs397516399 |
SNPdbe | rs397516399 |
MSV3d | rs397516399 |
GWAS Ctlg | rs397516399 |
Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
ClinVar | |
---|---|
Risk | rs397516399(C;C) |
Alt | rs397516399(C;C) |
Reference | Rs397516399(G;G) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not specified |
Variation | info |
Gene | MYL2 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not specified |
Reversed | 1 |
HGVS | NC_000012.11:g.111352004C>G |
CLNSRC | ClinVar |
CLNACC | RCV000036387.2, RCV000484012.1, |