rs121913322
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Make rs121913322(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 1221320 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913322 |
| dbSNP (classic) | rs121913322 |
| ClinGen | rs121913322 |
| ebi | rs121913322 |
| HLI | rs121913322 |
| Exac | rs121913322 |
| Gnomad | rs121913322 |
| Varsome | rs121913322 |
| LitVar | rs121913322 |
| Map | rs121913322 |
| PheGenI | rs121913322 |
| Biobank | rs121913322 |
| 1000 genomes | rs121913322 |
| hgdp | rs121913322 |
| ensembl | rs121913322 |
| geneview | rs121913322 |
| scholar | rs121913322 |
| rs121913322 | |
| pharmgkb | rs121913322 |
| gwascentral | rs121913322 |
| openSNP | rs121913322 |
| 23andMe | rs121913322 |
| SNPshot | rs121913322 |
| SNPdbe | rs121913322 |
| MSV3d | rs121913322 |
| GWAS Ctlg | rs121913322 |
| GMAF | 0.001837 |
| Max Magnitude | 5.8 |
Simple Nucleotide Polymorphisms (dbSNP 135) Flagged by dbSNP as Clinically Associatied SNP
From UCSC hg19 Position: chr19:1221319-1221319 http://main.genome-browser.bx.psu.edu/cgi-bin/hgc?hgsid=147742&c=chr19&o=1221318&t=1221319&g=snp135Flagged&i=rs121913322
Summary: C>C/T; chimp allele displayed first, then '>', then human alleles;
Strand: +; Observed: C/T; UCSC Reference allele: C
Chimp allele: C Chimp strand: + Chimp position: chr19:1171245-1171245;
Orangutan allele: C Orangutan strand: + Orangutan position: chr19:1137481-1137481;
Macaque allele: C Macaque strand: + Macaque position: chr19:975254-975254;
Class single
Validation by-cluster,by-1000genomes; Function missense_variant; Molecule Type genomic; Weight 1;
Submitter Handles: 1000GENOMES, DF-BWCC;
1000 genome Allele Frequencies: C: 99.817% (2184 / 2188); T: 0.183% (4 / 2188); MAF/MinorAlleleCount: T=0.002/4; MAF Source: 1000 Genomes;
Miscellaneous properties annotated by dbSNP:
SNP is in OMIM/OMIA and/or at least one submitter is a Locus-Specific Database ("clinically associated") ; SNP was submitted by Locus-Specific Database;
Coding annotations by dbSNP: STK11 (NM_000455): missense_variant P (CCG) --> L (CTG);
dbSNP: rs121913322
http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121913322
ss275515168 DF-BWCC|Cosmic:21355 ss491143638 1000GENOMES|20110521_exome_651436_chr19_1221319 ss491143638 1000GENOMES|20110521_exome_651436_chr19_1221319 ss491535737 EXOME_CHIP|nonsyn_251963_chr_19_1221319
| ClinVar | |
|---|---|
| Risk | rs121913322(A;A) rs121913322(G;G) rs121913322(T;T) |
| Alt | rs121913322(A;A) rs121913322(G;G) rs121913322(T;T) |
| Reference | Rs121913322(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not specified Peutz-Jeghers syndrome Neoplasm |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Hereditary cancer-predisposing syndrome not specified Peutz-Jeghers syndrome Neoplasm |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1221319C>A; NC_000019.9:g.1221319C>G; NC_000019.9:g.1221319C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000115601.7, RCV000213021.2, RCV000476631.1, RCV000164375.2, RCV000228218.2, RCV000130951.6, RCV000232126.2, RCV000235215.2, RCV000419015.1, |
