rs397517071
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs397517071(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34792092 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs397517071 |
dbSNP (classic) | rs397517071 |
ClinGen | rs397517071 |
ebi | rs397517071 |
HLI | rs397517071 |
Exac | rs397517071 |
Gnomad | rs397517071 |
Varsome | rs397517071 |
LitVar | rs397517071 |
Map | rs397517071 |
PheGenI | rs397517071 |
Biobank | rs397517071 |
1000 genomes | rs397517071 |
hgdp | rs397517071 |
ensembl | rs397517071 |
geneview | rs397517071 |
scholar | rs397517071 |
rs397517071 | |
pharmgkb | rs397517071 |
gwascentral | rs397517071 |
openSNP | rs397517071 |
23andMe | rs397517071 |
SNPshot | rs397517071 |
SNPdbe | rs397517071 |
MSV3d | rs397517071 |
GWAS Ctlg | rs397517071 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397517071(C;C) |
Alt | rs397517071(C;C) |
Reference | Rs397517071(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | not specified not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.35084293A>G |
CLNSRC | |
CLNACC | RCV000038340.2, RCV000157793.1, |