rs267608172
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(C;T) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs267608172(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 5982823 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608172 |
dbSNP (classic) | rs267608172 |
ClinGen | rs267608172 |
ebi | rs267608172 |
HLI | rs267608172 |
Exac | rs267608172 |
Gnomad | rs267608172 |
Varsome | rs267608172 |
LitVar | rs267608172 |
Map | rs267608172 |
PheGenI | rs267608172 |
Biobank | rs267608172 |
1000 genomes | rs267608172 |
hgdp | rs267608172 |
ensembl | rs267608172 |
geneview | rs267608172 |
scholar | rs267608172 |
rs267608172 | |
pharmgkb | rs267608172 |
gwascentral | rs267608172 |
openSNP | rs267608172 |
23andMe | rs267608172 |
SNPshot | rs267608172 |
SNPdbe | rs267608172 |
MSV3d | rs267608172 |
GWAS Ctlg | rs267608172 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608172(A;A) rs267608172(C;C) rs267608172(T;T) |
Alt | rs267608172(A;A) rs267608172(C;C) rs267608172(T;T) |
Reference | Rs267608172(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome not provided Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 |
Reversed | 1 |
HGVS | NC_000007.13:g.6022454C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076844.4, RCV000115677.2, RCV000218995.1, RCV000409361.1, |