rs111466480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome |
Make rs111466480(A;C) |
Make rs111466480(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 6003688 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs111466480 |
dbSNP (classic) | rs111466480 |
ClinGen | rs111466480 |
ebi | rs111466480 |
HLI | rs111466480 |
Exac | rs111466480 |
Gnomad | rs111466480 |
Varsome | rs111466480 |
LitVar | rs111466480 |
Map | rs111466480 |
PheGenI | rs111466480 |
Biobank | rs111466480 |
1000 genomes | rs111466480 |
hgdp | rs111466480 |
ensembl | rs111466480 |
geneview | rs111466480 |
scholar | rs111466480 |
rs111466480 | |
pharmgkb | rs111466480 |
gwascentral | rs111466480 |
openSNP | rs111466480 |
23andMe | rs111466480 |
SNPshot | rs111466480 |
SNPdbe | rs111466480 |
MSV3d | rs111466480 |
GWAS Ctlg | rs111466480 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs111466480(C;C) rs111466480(G;G) |
Alt | rs111466480(C;C) rs111466480(G;G) |
Reference | Rs111466480(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.6043319A>G |
CLNSRC | |
CLNACC | RCV000468932.1, |