rs267608161
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4 | linked to certain hereditary cancers |
(G;G) | 0 | common in clinvar |
Make rs267608161(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 5982885 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608161 |
dbSNP (classic) | rs267608161 |
ClinGen | rs267608161 |
ebi | rs267608161 |
HLI | rs267608161 |
Exac | rs267608161 |
Gnomad | rs267608161 |
Varsome | rs267608161 |
LitVar | rs267608161 |
Map | rs267608161 |
PheGenI | rs267608161 |
Biobank | rs267608161 |
1000 genomes | rs267608161 |
hgdp | rs267608161 |
ensembl | rs267608161 |
geneview | rs267608161 |
scholar | rs267608161 |
rs267608161 | |
pharmgkb | rs267608161 |
gwascentral | rs267608161 |
openSNP | rs267608161 |
23andMe | rs267608161 |
SNPshot | rs267608161 |
SNPdbe | rs267608161 |
MSV3d | rs267608161 |
GWAS Ctlg | rs267608161 |
Max Magnitude | 4 |
ClinVar | |
---|---|
Risk | rs267608161(A;A) |
Alt | rs267608161(A;A) |
Reference | Rs267608161(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided Lynch syndrome I Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome not provided Lynch syndrome I Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6022516C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000076843.2, RCV000115674.2, RCV000144654.1, RCV000223542.1, |