rs143277125
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs143277125(G;T) |
Make rs143277125(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 5992012 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs143277125 |
dbSNP (classic) | rs143277125 |
ClinGen | rs143277125 |
ebi | rs143277125 |
HLI | rs143277125 |
Exac | rs143277125 |
Gnomad | rs143277125 |
Varsome | rs143277125 |
LitVar | rs143277125 |
Map | rs143277125 |
PheGenI | rs143277125 |
Biobank | rs143277125 |
1000 genomes | rs143277125 |
hgdp | rs143277125 |
ensembl | rs143277125 |
geneview | rs143277125 |
scholar | rs143277125 |
rs143277125 | |
pharmgkb | rs143277125 |
gwascentral | rs143277125 |
openSNP | rs143277125 |
23andMe | rs143277125 |
SNPshot | rs143277125 |
SNPdbe | rs143277125 |
MSV3d | rs143277125 |
GWAS Ctlg | rs143277125 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs143277125(A;A) rs143277125(T;T) |
Alt | rs143277125(A;A) rs143277125(T;T) |
Reference | Rs143277125(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome not specified |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.6031643G>A; NC_000007.13:g.6031643G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076902.2, RCV000483849.1, |