rs587781317
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs587781317(C;C) |
Make rs587781317(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 5982903 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587781317 |
dbSNP (classic) | rs587781317 |
ClinGen | rs587781317 |
ebi | rs587781317 |
HLI | rs587781317 |
Exac | rs587781317 |
Gnomad | rs587781317 |
Varsome | rs587781317 |
LitVar | rs587781317 |
Map | rs587781317 |
PheGenI | rs587781317 |
Biobank | rs587781317 |
1000 genomes | rs587781317 |
hgdp | rs587781317 |
ensembl | rs587781317 |
geneview | rs587781317 |
scholar | rs587781317 |
rs587781317 | |
pharmgkb | rs587781317 |
gwascentral | rs587781317 |
openSNP | rs587781317 |
23andMe | rs587781317 |
SNPshot | rs587781317 |
SNPdbe | rs587781317 |
MSV3d | rs587781317 |
GWAS Ctlg | rs587781317 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587781317(C;C) |
Alt | rs587781317(C;C) |
Reference | Rs587781317(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6022534C>G |
CLNSRC | |
CLNACC | RCV000129052.2, RCV000214144.1, RCV000234750.2, |