rs201451115
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs201451115(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 5986826 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs201451115 |
dbSNP (classic) | rs201451115 |
ClinGen | rs201451115 |
ebi | rs201451115 |
HLI | rs201451115 |
Exac | rs201451115 |
Gnomad | rs201451115 |
Varsome | rs201451115 |
LitVar | rs201451115 |
Map | rs201451115 |
PheGenI | rs201451115 |
Biobank | rs201451115 |
1000 genomes | rs201451115 |
hgdp | rs201451115 |
ensembl | rs201451115 |
geneview | rs201451115 |
scholar | rs201451115 |
rs201451115 | |
pharmgkb | rs201451115 |
gwascentral | rs201451115 |
openSNP | rs201451115 |
23andMe | rs201451115 |
SNPshot | rs201451115 |
SNPdbe | rs201451115 |
MSV3d | rs201451115 |
GWAS Ctlg | rs201451115 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs201451115(A;A) |
Alt | rs201451115(A;A) |
Reference | Rs201451115(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.6026457T>A |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076836.2, RCV000128864.2, RCV000414304.1, |