rs727504379
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
(T;T) | 0 | common in clinvar |
Make rs727504379(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34791238 |
Gene | ACTC1, LOC101928174 |
is a | snp |
is | mentioned by |
dbSNP | rs727504379 |
dbSNP (classic) | rs727504379 |
ClinGen | rs727504379 |
ebi | rs727504379 |
HLI | rs727504379 |
Exac | rs727504379 |
Gnomad | rs727504379 |
Varsome | rs727504379 |
LitVar | rs727504379 |
Map | rs727504379 |
PheGenI | rs727504379 |
Biobank | rs727504379 |
1000 genomes | rs727504379 |
hgdp | rs727504379 |
ensembl | rs727504379 |
geneview | rs727504379 |
scholar | rs727504379 |
rs727504379 | |
pharmgkb | rs727504379 |
gwascentral | rs727504379 |
openSNP | rs727504379 |
23andMe | rs727504379 |
SNPshot | rs727504379 |
SNPdbe | rs727504379 |
MSV3d | rs727504379 |
GWAS Ctlg | rs727504379 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727504379(C;C) |
Alt | rs727504379(C;C) |
Reference | Rs727504379(T;T) |
Significance | Probable-Pathogenic |
Disease | Cardiomyopathy not provided |
Variation | info |
Gene | ACTC1 LOC101928174 RP11-814P5.1 |
CLNDBN | Cardiomyopathy not provided |
Reversed | 1 |
HGVS | NC_000015.9:g.35083439A>G |
CLNSRC | |
CLNACC | RCV000154537.1, RCV000157806.1, |