rs878854496
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | Lynch syndrome mutation |
Make rs878854496(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 47386570 |
Gene | EPCAM |
is a | snp |
is | mentioned by |
dbSNP | rs878854496 |
dbSNP (classic) | rs878854496 |
ClinGen | rs878854496 |
ebi | rs878854496 |
HLI | rs878854496 |
Exac | rs878854496 |
Gnomad | rs878854496 |
Varsome | rs878854496 |
LitVar | rs878854496 |
Map | rs878854496 |
PheGenI | rs878854496 |
Biobank | rs878854496 |
1000 genomes | rs878854496 |
hgdp | rs878854496 |
ensembl | rs878854496 |
geneview | rs878854496 |
scholar | rs878854496 |
rs878854496 | |
pharmgkb | rs878854496 |
gwascentral | rs878854496 |
openSNP | rs878854496 |
23andMe | rs878854496 |
SNPshot | rs878854496 |
SNPdbe | rs878854496 |
MSV3d | rs878854496 |
GWAS Ctlg | rs878854496 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs878854496(G;G) |
Alt | rs878854496(G;G) |
Reference | Rs878854496(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | EPCAM |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47613709A>G |
CLNSRC | |
CLNACC | RCV000232256.1, |