rs62636492
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs62636492(C;T) |
Make rs62636492(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 219421364 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs62636492 |
dbSNP (classic) | rs62636492 |
ClinGen | rs62636492 |
ebi | rs62636492 |
HLI | rs62636492 |
Exac | rs62636492 |
Gnomad | rs62636492 |
Varsome | rs62636492 |
LitVar | rs62636492 |
Map | rs62636492 |
PheGenI | rs62636492 |
Biobank | rs62636492 |
1000 genomes | rs62636492 |
hgdp | rs62636492 |
ensembl | rs62636492 |
geneview | rs62636492 |
scholar | rs62636492 |
rs62636492 | |
pharmgkb | rs62636492 |
gwascentral | rs62636492 |
openSNP | rs62636492 |
23andMe | rs62636492 |
SNPshot | rs62636492 |
SNPdbe | rs62636492 |
MSV3d | rs62636492 |
GWAS Ctlg | rs62636492 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62636492(T;T) |
Alt | rs62636492(T;T) |
Reference | Rs62636492(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified not provided Primary dilated cardiomyopathy |
Variation | info |
Gene | DES |
CLNDBN | not specified not provided Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.220286086C>T |
CLNSRC | |
CLNACC | RCV000037224.2, RCV000056766.1, RCV000157164.1, |