rs878854491
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome mutation |
Make rs878854491(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 47377045 |
Gene | EPCAM, MIR559 |
is a | snp |
is | mentioned by |
dbSNP | rs878854491 |
dbSNP (classic) | rs878854491 |
ClinGen | rs878854491 |
ebi | rs878854491 |
HLI | rs878854491 |
Exac | rs878854491 |
Gnomad | rs878854491 |
Varsome | rs878854491 |
LitVar | rs878854491 |
Map | rs878854491 |
PheGenI | rs878854491 |
Biobank | rs878854491 |
1000 genomes | rs878854491 |
hgdp | rs878854491 |
ensembl | rs878854491 |
geneview | rs878854491 |
scholar | rs878854491 |
rs878854491 | |
pharmgkb | rs878854491 |
gwascentral | rs878854491 |
openSNP | rs878854491 |
23andMe | rs878854491 |
SNPshot | rs878854491 |
SNPdbe | rs878854491 |
MSV3d | rs878854491 |
GWAS Ctlg | rs878854491 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs878854491(T;T) |
Alt | rs878854491(T;T) |
Reference | Rs878854491(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | EPCAM MIR559 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47604184C>T |
CLNSRC | |
CLNACC | RCV000227834.1, |