rs377272752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(D;D) | 0 | common genotype |
(TCC;TCC) | 0 | common in clinvar |
Make rs377272752(-;-) |
Make rs377272752(-;CCT) |
Make rs377272752(CCT;CCT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 31069032 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs377272752 |
dbSNP (classic) | rs377272752 |
ClinGen | rs377272752 |
ebi | rs377272752 |
HLI | rs377272752 |
Exac | rs377272752 |
Gnomad | rs377272752 |
Varsome | rs377272752 |
LitVar | rs377272752 |
Map | rs377272752 |
PheGenI | rs377272752 |
Biobank | rs377272752 |
1000 genomes | rs377272752 |
hgdp | rs377272752 |
ensembl | rs377272752 |
geneview | rs377272752 |
scholar | rs377272752 |
rs377272752 | |
pharmgkb | rs377272752 |
gwascentral | rs377272752 |
openSNP | rs377272752 |
23andMe | rs377272752 |
SNPshot | rs377272752 |
SNPdbe | rs377272752 |
MSV3d | rs377272752 |
GWAS Ctlg | rs377272752 |
Merged from | Rs786205360 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs377272752(TCC;TCC) |
Significance | Probable-Pathogenic |
Disease | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy |
Variation | info |
Gene | DSC2 |
CLNDBN | Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.28648998_28649000delTCC |
CLNSRC | |
CLNACC | RCV000157177.1, RCV000181173.1, |