rs869025501
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869025501(C;T) |
Make rs869025501(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 12604191 |
Gene | RAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025501 |
dbSNP (classic) | rs869025501 |
ClinGen | rs869025501 |
ebi | rs869025501 |
HLI | rs869025501 |
Exac | rs869025501 |
Gnomad | rs869025501 |
Varsome | rs869025501 |
LitVar | rs869025501 |
Map | rs869025501 |
PheGenI | rs869025501 |
Biobank | rs869025501 |
1000 genomes | rs869025501 |
hgdp | rs869025501 |
ensembl | rs869025501 |
geneview | rs869025501 |
scholar | rs869025501 |
rs869025501 | |
pharmgkb | rs869025501 |
gwascentral | rs869025501 |
openSNP | rs869025501 |
23andMe | rs869025501 |
SNPshot | rs869025501 |
SNPdbe | rs869025501 |
MSV3d | rs869025501 |
GWAS Ctlg | rs869025501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025501(T;T) |
Alt | rs869025501(T;T) |
Reference | Rs869025501(C;C) |
Significance | Probable-Pathogenic |
Disease | Primary familial hypertrophic cardiomyopathy not provided |
Variation | info |
Gene | RAF1 |
CLNDBN | Primary familial hypertrophic cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000003.11:g.12645690G>A |
CLNSRC | |
CLNACC | RCV000208050.1, RCV000494156.1, |