rs863224453
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome mutation |
(G;G) | 0 | common in clinvar |
Make rs863224453(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 47385165 |
Gene | EPCAM |
is a | snp |
is | mentioned by |
dbSNP | rs863224453 |
dbSNP (classic) | rs863224453 |
ClinGen | rs863224453 |
ebi | rs863224453 |
HLI | rs863224453 |
Exac | rs863224453 |
Gnomad | rs863224453 |
Varsome | rs863224453 |
LitVar | rs863224453 |
Map | rs863224453 |
PheGenI | rs863224453 |
Biobank | rs863224453 |
1000 genomes | rs863224453 |
hgdp | rs863224453 |
ensembl | rs863224453 |
geneview | rs863224453 |
scholar | rs863224453 |
rs863224453 | |
pharmgkb | rs863224453 |
gwascentral | rs863224453 |
openSNP | rs863224453 |
23andMe | rs863224453 |
SNPshot | rs863224453 |
SNPdbe | rs863224453 |
MSV3d | rs863224453 |
GWAS Ctlg | rs863224453 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs863224453(A;A) |
Alt | rs863224453(A;A) |
Reference | Rs863224453(G;G) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | EPCAM |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47612304G>A |
CLNSRC | |
CLNACC | RCV000199459.1, |