rs1057519962
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519962(A;A) |
Make rs1057519962(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 18 |
Position | 51067035 |
Gene | SMAD4 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519962 |
dbSNP (classic) | rs1057519962 |
ClinGen | rs1057519962 |
ebi | rs1057519962 |
HLI | rs1057519962 |
Exac | rs1057519962 |
Gnomad | rs1057519962 |
Varsome | rs1057519962 |
LitVar | rs1057519962 |
Map | rs1057519962 |
PheGenI | rs1057519962 |
Biobank | rs1057519962 |
1000 genomes | rs1057519962 |
hgdp | rs1057519962 |
ensembl | rs1057519962 |
geneview | rs1057519962 |
scholar | rs1057519962 |
rs1057519962 | |
pharmgkb | rs1057519962 |
gwascentral | rs1057519962 |
openSNP | rs1057519962 |
23andMe | rs1057519962 |
SNPshot | rs1057519962 |
SNPdbe | rs1057519962 |
MSV3d | rs1057519962 |
GWAS Ctlg | rs1057519962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519962(A;A) rs1057519962(T;T) |
Alt | rs1057519962(A;A) rs1057519962(T;T) |
Reference | Rs1057519962(G;G) |
Significance | Probable-Pathogenic |
Disease | Oesophageal carcinoma Adenocarcinoma of lung Pancreatic adenocarcinoma Colorectal Neoplasms Adenocarcinoma of stomach Adenocarcinoma of prostate |
Variation | info |
Gene | SMAD4 |
CLNDBN | Oesophageal carcinoma Adenocarcinoma of lung Pancreatic adenocarcinoma Colorectal Neoplasms Adenocarcinoma of stomach Adenocarcinoma of prostate |
Reversed | 0 |
HGVS | NC_000018.9:g.48593405G>A; NC_000018.9:g.48593405G>T |
CLNSRC | |
CLNACC | RCV000419978.1, RCV000421895.1, RCV000429536.1, RCV000430240.1, RCV000439617.1, RCV000439753.1, RCV000421325.1, RCV000421536.1, RCV000431585.1, RCV000434360.1, RCV000439155.1, RCV000444559.1, |