rs794728077
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794728077(G;TT) |
Make rs794728077(TT;TT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 18 |
Position | 31068173 |
Gene | DSC2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728077 |
dbSNP (classic) | rs794728077 |
ClinGen | rs794728077 |
ebi | rs794728077 |
HLI | rs794728077 |
Exac | rs794728077 |
Gnomad | rs794728077 |
Varsome | rs794728077 |
LitVar | rs794728077 |
Map | rs794728077 |
PheGenI | rs794728077 |
Biobank | rs794728077 |
1000 genomes | rs794728077 |
hgdp | rs794728077 |
ensembl | rs794728077 |
geneview | rs794728077 |
scholar | rs794728077 |
rs794728077 | |
pharmgkb | rs794728077 |
gwascentral | rs794728077 |
openSNP | rs794728077 |
23andMe | rs794728077 |
SNPshot | rs794728077 |
SNPdbe | rs794728077 |
MSV3d | rs794728077 |
GWAS Ctlg | rs794728077 |
Max Magnitude | 0 |
aka c.2548delGinsTT
ClinVar | |
---|---|
Risk | rs794728077(TT;TT) |
Alt | rs794728077(TT;TT) |
Reference | Rs794728077(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | DSC2 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000018.9:g.28648139delCinsAA |
CLNSRC | |
CLNACC | RCV000181181.2, |