rs267608160
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTTC) | 6 | Lynch syndrome, pathogenic mutation |
(CTTC;CTTC) | 0 | common in clinvar |
Make rs267608160(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 5977669 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608160 |
dbSNP (classic) | rs267608160 |
ClinGen | rs267608160 |
ebi | rs267608160 |
HLI | rs267608160 |
Exac | rs267608160 |
Gnomad | rs267608160 |
Varsome | rs267608160 |
LitVar | rs267608160 |
Map | rs267608160 |
PheGenI | rs267608160 |
Biobank | rs267608160 |
1000 genomes | rs267608160 |
hgdp | rs267608160 |
ensembl | rs267608160 |
geneview | rs267608160 |
scholar | rs267608160 |
rs267608160 | |
pharmgkb | rs267608160 |
gwascentral | rs267608160 |
openSNP | rs267608160 |
23andMe | rs267608160 |
SNPshot | rs267608160 |
SNPdbe | rs267608160 |
MSV3d | rs267608160 |
GWAS Ctlg | rs267608160 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608160(-;-) |
Alt | rs267608160(-;-) |
Reference | Rs267608160(CTTC;CTTC) |
Significance | Pathogenic |
Disease | Turcot syndrome Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Turcot syndrome Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6017300_6017303delGAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009817.3, RCV000076853.2, |