rs587781626
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs587781626(AT;G) |
Make rs587781626(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5973487 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781626 |
dbSNP (classic) | rs587781626 |
ClinGen | rs587781626 |
ebi | rs587781626 |
HLI | rs587781626 |
Exac | rs587781626 |
Gnomad | rs587781626 |
Varsome | rs587781626 |
LitVar | rs587781626 |
Map | rs587781626 |
PheGenI | rs587781626 |
Biobank | rs587781626 |
1000 genomes | rs587781626 |
hgdp | rs587781626 |
ensembl | rs587781626 |
geneview | rs587781626 |
scholar | rs587781626 |
rs587781626 | |
pharmgkb | rs587781626 |
gwascentral | rs587781626 |
openSNP | rs587781626 |
23andMe | rs587781626 |
SNPshot | rs587781626 |
SNPdbe | rs587781626 |
MSV3d | rs587781626 |
GWAS Ctlg | rs587781626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781626(G;G) |
Alt | rs587781626(G;G) |
Reference | Rs587781626(AT;AT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6013118_6013119delATinsC |
CLNSRC | |
CLNACC | RCV000129728.2, RCV000469291.1, |