rs200640585
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(C;T) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs200640585(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 5992018 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs200640585 |
dbSNP (classic) | rs200640585 |
ClinGen | rs200640585 |
ebi | rs200640585 |
HLI | rs200640585 |
Exac | rs200640585 |
Gnomad | rs200640585 |
Varsome | rs200640585 |
LitVar | rs200640585 |
Map | rs200640585 |
PheGenI | rs200640585 |
Biobank | rs200640585 |
1000 genomes | rs200640585 |
hgdp | rs200640585 |
ensembl | rs200640585 |
geneview | rs200640585 |
scholar | rs200640585 |
rs200640585 | |
pharmgkb | rs200640585 |
gwascentral | rs200640585 |
openSNP | rs200640585 |
23andMe | rs200640585 |
SNPshot | rs200640585 |
SNPdbe | rs200640585 |
MSV3d | rs200640585 |
GWAS Ctlg | rs200640585 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs200640585(A;A) |
Alt | rs200640585(A;A) |
Reference | Rs200640585(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer not provided |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.6031649G>A |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076901.2, RCV000115711.4, RCV000148734.1, RCV000212858.1, |