rs786203954
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs786203954(A;A) |
Make rs786203954(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 6002637 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs786203954 |
dbSNP (classic) | rs786203954 |
ClinGen | rs786203954 |
ebi | rs786203954 |
HLI | rs786203954 |
Exac | rs786203954 |
Gnomad | rs786203954 |
Varsome | rs786203954 |
LitVar | rs786203954 |
Map | rs786203954 |
PheGenI | rs786203954 |
Biobank | rs786203954 |
1000 genomes | rs786203954 |
hgdp | rs786203954 |
ensembl | rs786203954 |
geneview | rs786203954 |
scholar | rs786203954 |
rs786203954 | |
pharmgkb | rs786203954 |
gwascentral | rs786203954 |
openSNP | rs786203954 |
23andMe | rs786203954 |
SNPshot | rs786203954 |
SNPdbe | rs786203954 |
MSV3d | rs786203954 |
GWAS Ctlg | rs786203954 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs786203954(A;A) |
Alt | rs786203954(A;A) |
Reference | Rs786203954(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6042268C>T |
CLNSRC | |
CLNACC | RCV000167479.1, |