rs762485848
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs762485848(-;C) |
Make rs762485848(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 6003717 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs762485848 |
dbSNP (classic) | rs762485848 |
ClinGen | rs762485848 |
ebi | rs762485848 |
HLI | rs762485848 |
Exac | rs762485848 |
Gnomad | rs762485848 |
Varsome | rs762485848 |
LitVar | rs762485848 |
Map | rs762485848 |
PheGenI | rs762485848 |
Biobank | rs762485848 |
1000 genomes | rs762485848 |
hgdp | rs762485848 |
ensembl | rs762485848 |
geneview | rs762485848 |
scholar | rs762485848 |
rs762485848 | |
pharmgkb | rs762485848 |
gwascentral | rs762485848 |
openSNP | rs762485848 |
23andMe | rs762485848 |
SNPshot | rs762485848 |
SNPdbe | rs762485848 |
MSV3d | rs762485848 |
GWAS Ctlg | rs762485848 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762485848(C;C) |
Alt | rs762485848(C;C) |
Reference | Rs762485848(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.6043349dupC |
CLNSRC | |
CLNACC | RCV000218863.1, |