rs587782710
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;ACTCCGTG) | 6 | Lynch syndrome |
(ACTCCGTG;ACTCCGTG) | 0 | common in clinvar |
Make rs587782710(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5997376 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782710 |
dbSNP (classic) | rs587782710 |
ClinGen | rs587782710 |
ebi | rs587782710 |
HLI | rs587782710 |
Exac | rs587782710 |
Gnomad | rs587782710 |
Varsome | rs587782710 |
LitVar | rs587782710 |
Map | rs587782710 |
PheGenI | rs587782710 |
Biobank | rs587782710 |
1000 genomes | rs587782710 |
hgdp | rs587782710 |
ensembl | rs587782710 |
geneview | rs587782710 |
scholar | rs587782710 |
rs587782710 | |
pharmgkb | rs587782710 |
gwascentral | rs587782710 |
openSNP | rs587782710 |
23andMe | rs587782710 |
SNPshot | rs587782710 |
SNPdbe | rs587782710 |
MSV3d | rs587782710 |
GWAS Ctlg | rs587782710 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs587782710(-;-) |
Alt | rs587782710(-;-) |
Reference | Rs587782710(ACTCCGTG;ACTCCGTG) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6037007_6037014delCACGGAGT |
CLNSRC | |
CLNACC | RCV000132182.2, RCV000222778.1, RCV000227297.1, |