rs878854060
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs878854060(-;-) |
Make rs878854060(-;AC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 5992013 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs878854060 |
dbSNP (classic) | rs878854060 |
ClinGen | rs878854060 |
ebi | rs878854060 |
HLI | rs878854060 |
Exac | rs878854060 |
Gnomad | rs878854060 |
Varsome | rs878854060 |
LitVar | rs878854060 |
Map | rs878854060 |
PheGenI | rs878854060 |
Biobank | rs878854060 |
1000 genomes | rs878854060 |
hgdp | rs878854060 |
ensembl | rs878854060 |
geneview | rs878854060 |
scholar | rs878854060 |
rs878854060 | |
pharmgkb | rs878854060 |
gwascentral | rs878854060 |
openSNP | rs878854060 |
23andMe | rs878854060 |
SNPshot | rs878854060 |
SNPdbe | rs878854060 |
MSV3d | rs878854060 |
GWAS Ctlg | rs878854060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854060(-;-) |
Alt | rs878854060(-;-) |
Reference | Rs878854060(AC;AC) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6031644_6031645delGT |
CLNSRC | |
CLNACC | RCV000234194.1, |