rs587782338
From SNPedia
Merged into | rs80338965 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGAC;AGAC) | 0 | common in clinvar |
Make rs587782338(-;-) |
Make rs587782338(-;CAGA) |
Make rs587782338(CAGA;CAGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 51067124 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs587782338 |
dbSNP (classic) | rs587782338 |
ClinGen | rs587782338 |
ebi | rs587782338 |
HLI | rs587782338 |
Exac | rs587782338 |
Gnomad | rs587782338 |
Varsome | rs587782338 |
LitVar | rs587782338 |
Map | rs587782338 |
PheGenI | rs587782338 |
Biobank | rs587782338 |
1000 genomes | rs587782338 |
hgdp | rs587782338 |
ensembl | rs587782338 |
geneview | rs587782338 |
scholar | rs587782338 |
rs587782338 | |
pharmgkb | rs587782338 |
gwascentral | rs587782338 |
openSNP | rs587782338 |
23andMe | rs587782338 |
SNPshot | rs587782338 |
SNPdbe | rs587782338 |
MSV3d | rs587782338 |
GWAS Ctlg | rs587782338 |
Status | Merged into rs80338965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs587782338(AGAC;AGAC) |
Significance | Pathogenic |
Disease | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not provided |
Variation | info |
Gene | SMAD4 |
CLNDBN | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not provided |
Reversed | 0 |
HGVS | NC_000018.9:g.48593494_48593497delCAGA |
CLNSRC | |
CLNACC | RCV000021727.1, RCV000131266.4, RCV000205495.1, RCV000254690.1, |