rs113517055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(C;C) | 0 | common in clinvar |
Make rs113517055(A;A) |
Make rs113517055(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 6003689 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs113517055 |
dbSNP (classic) | rs113517055 |
ClinGen | rs113517055 |
ebi | rs113517055 |
HLI | rs113517055 |
Exac | rs113517055 |
Gnomad | rs113517055 |
Varsome | rs113517055 |
LitVar | rs113517055 |
Map | rs113517055 |
PheGenI | rs113517055 |
Biobank | rs113517055 |
1000 genomes | rs113517055 |
hgdp | rs113517055 |
ensembl | rs113517055 |
geneview | rs113517055 |
scholar | rs113517055 |
rs113517055 | |
pharmgkb | rs113517055 |
gwascentral | rs113517055 |
openSNP | rs113517055 |
23andMe | rs113517055 |
SNPshot | rs113517055 |
SNPdbe | rs113517055 |
MSV3d | rs113517055 |
GWAS Ctlg | rs113517055 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs113517055(A;A) rs113517055(T;T) |
Alt | rs113517055(A;A) rs113517055(T;T) |
Reference | Rs113517055(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | not provided Lynch syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.6043320C>T |
CLNSRC | |
CLNACC | RCV000217968.1, RCV000476751.1, |