rs794728100
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs794728100(ATTCTATTGTTGTGCTATTGTTAT;ATTCTATTGTTGTGCTATTGTTAT) |
Make rs794728100(ATTCTATTGTTGTGCTATTGTTAT;TA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31519807 |
Gene | DSG2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728100 |
dbSNP (classic) | rs794728100 |
ClinGen | rs794728100 |
ebi | rs794728100 |
HLI | rs794728100 |
Exac | rs794728100 |
Gnomad | rs794728100 |
Varsome | rs794728100 |
LitVar | rs794728100 |
Map | rs794728100 |
PheGenI | rs794728100 |
Biobank | rs794728100 |
1000 genomes | rs794728100 |
hgdp | rs794728100 |
ensembl | rs794728100 |
geneview | rs794728100 |
scholar | rs794728100 |
rs794728100 | |
pharmgkb | rs794728100 |
gwascentral | rs794728100 |
openSNP | rs794728100 |
23andMe | rs794728100 |
SNPshot | rs794728100 |
SNPdbe | rs794728100 |
MSV3d | rs794728100 |
GWAS Ctlg | rs794728100 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728100(ATTCTATTGTTGTGCTATTGTTAT;ATTCTATTGTTGTGCTATTGTTAT) |
Alt | rs794728100(ATTCTATTGTTGTGCTATTGTTAT;ATTCTATTGTTGTGCTATTGTTAT) |
Reference | Rs794728100(TA;TA) |
Significance | Pathogenic |
Disease | Cardiomyopathy |
Variation | info |
Gene | DSG2 |
CLNDBN | Cardiomyopathy |
Reversed | 0 |
HGVS | NC_000018.9:g.29099770_29099771delTAinsATTCTATTGTTGTGCTATTGTTAT |
CLNSRC | |
CLNACC | RCV000181253.1, |