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rs121913322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
Make rs121913322(C;T)
Make rs121913322(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position1221320
GeneSTK11
is asnp
is mentioned by
dbSNPrs121913322
ebirs121913322
HLIrs121913322
Exacrs121913322
Varsomers121913322
Maprs121913322
PheGenIrs121913322
hapmaprs121913322
1000 genomesrs121913322
hgdprs121913322
ensemblrs121913322
gopubmedrs121913322
geneviewrs121913322
scholarrs121913322
googlers121913322
pharmgkbrs121913322
gwascentralrs121913322
openSNPrs121913322
23andMers121913322
23andMe allrs121913322
SNP Nexus

SNPshotrs121913322
SNPdbers121913322
MSV3drs121913322
GWAS Ctlgrs121913322
GMAF0.001837
Max Magnitude0
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,G,T;A,G,T)
Alt rs121913322(A,G,T;A,G,T)
Reference rs121913322(C;C)
Significance Probable-non-pathogenic
Disease Hereditary cancer-predisposing syndrome not specified Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Hereditary cancer-predisposing syndrome not specified Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1221319C>A; NC_000019.9:g.1221319C>G; NC_000019.9:g.1221319C>T
CLNSRC Inc.
CLNACC RCV000115601.6, RCV000213021.2, RCV000164375.1, RCV000228218.1, RCV000130951.5, RCV000232126.1, RCV000235215.1,