rs786204319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Lynch syndrome |
Make rs786204319(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 47410202 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204319 |
dbSNP (classic) | rs786204319 |
ClinGen | rs786204319 |
ebi | rs786204319 |
HLI | rs786204319 |
Exac | rs786204319 |
Gnomad | rs786204319 |
Varsome | rs786204319 |
LitVar | rs786204319 |
Map | rs786204319 |
PheGenI | rs786204319 |
Biobank | rs786204319 |
1000 genomes | rs786204319 |
hgdp | rs786204319 |
ensembl | rs786204319 |
geneview | rs786204319 |
scholar | rs786204319 |
rs786204319 | |
pharmgkb | rs786204319 |
gwascentral | rs786204319 |
openSNP | rs786204319 |
23andMe | rs786204319 |
SNPshot | rs786204319 |
SNPdbe | rs786204319 |
MSV3d | rs786204319 |
GWAS Ctlg | rs786204319 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786204319(A;A) |
Alt | rs786204319(A;A) |
Reference | Rs786204319(-;-) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47637341dupA |
CLNSRC | Children's Hospital of Eastern Ontario |
CLNACC | RCV000168724.2, |