rs730881957
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs730881957(-;-) |
Make rs730881957(-;GA) |
Make rs730881957(GA;GA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 51076667 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs730881957 |
dbSNP (classic) | rs730881957 |
ClinGen | rs730881957 |
ebi | rs730881957 |
HLI | rs730881957 |
Exac | rs730881957 |
Gnomad | rs730881957 |
Varsome | rs730881957 |
LitVar | rs730881957 |
Map | rs730881957 |
PheGenI | rs730881957 |
Biobank | rs730881957 |
1000 genomes | rs730881957 |
hgdp | rs730881957 |
ensembl | rs730881957 |
geneview | rs730881957 |
scholar | rs730881957 |
rs730881957 | |
pharmgkb | rs730881957 |
gwascentral | rs730881957 |
openSNP | rs730881957 |
23andMe | rs730881957 |
SNPshot | rs730881957 |
SNPdbe | rs730881957 |
MSV3d | rs730881957 |
GWAS Ctlg | rs730881957 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730881957(-;-) |
Alt | rs730881957(-;-) |
Reference | Rs730881957(AG;AG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SMAD4 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000018.9:g.48603037_48603038delGA |
CLNSRC | |
CLNACC | RCV000160966.1, |