rs587782336
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587782336(A;C) |
Make rs587782336(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5982993 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587782336 |
dbSNP (classic) | rs587782336 |
ClinGen | rs587782336 |
ebi | rs587782336 |
HLI | rs587782336 |
Exac | rs587782336 |
Gnomad | rs587782336 |
Varsome | rs587782336 |
LitVar | rs587782336 |
Map | rs587782336 |
PheGenI | rs587782336 |
Biobank | rs587782336 |
1000 genomes | rs587782336 |
hgdp | rs587782336 |
ensembl | rs587782336 |
geneview | rs587782336 |
scholar | rs587782336 |
rs587782336 | |
pharmgkb | rs587782336 |
gwascentral | rs587782336 |
openSNP | rs587782336 |
23andMe | rs587782336 |
SNPshot | rs587782336 |
SNPdbe | rs587782336 |
MSV3d | rs587782336 |
GWAS Ctlg | rs587782336 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587782336(C;C) |
Alt | rs587782336(C;C) |
Reference | Rs587782336(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6022624T>G |
CLNSRC | |
CLNACC | RCV000131264.2, |