rs397516695
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516695(A;A) |
Make rs397516695(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 219418869 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs397516695 |
dbSNP (classic) | rs397516695 |
ClinGen | rs397516695 |
ebi | rs397516695 |
HLI | rs397516695 |
Exac | rs397516695 |
Gnomad | rs397516695 |
Varsome | rs397516695 |
LitVar | rs397516695 |
Map | rs397516695 |
PheGenI | rs397516695 |
Biobank | rs397516695 |
1000 genomes | rs397516695 |
hgdp | rs397516695 |
ensembl | rs397516695 |
geneview | rs397516695 |
scholar | rs397516695 |
rs397516695 | |
pharmgkb | rs397516695 |
gwascentral | rs397516695 |
openSNP | rs397516695 |
23andMe | rs397516695 |
SNPshot | rs397516695 |
SNPdbe | rs397516695 |
MSV3d | rs397516695 |
GWAS Ctlg | rs397516695 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516695(A;A) rs397516695(C;C) |
Alt | rs397516695(A;A) rs397516695(C;C) |
Reference | Rs397516695(T;T) |
Significance | Probable-Pathogenic |
Disease | not specified Dilated cardiomyopathy 1S |
Variation | info |
Gene | DES |
CLNDBN | not specified Dilated cardiomyopathy 1S |
Reversed | 0 |
HGVS | NC_000002.11:g.220283591T>A; NC_000002.11:g.220283591T>C |
CLNSRC | |
CLNACC | RCV000037241.5, RCV000491641.1, |