{{Rsnum
|rsid=6939340
|Gene=LINC00340
|Chromosome=6
|position=22139775
|Orientation=plus
|GMAF=0.3471
|Gene_s=LINC00340,P2RX7
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 26.5 | 54.9 | 18.6
| HCB | 11.7 | 43.8 | 44.5
| JPT | 8.0 | 50.0 | 42.0
| YRI | 0.7 | 19.7 | 79.6
| ASW | 0.0 | 24.6 | 75.4
| CHB | 11.7 | 43.8 | 44.5
| CHD | 15.7 | 38.9 | 45.4
| GIH | 11.9 | 55.4 | 32.7
| LWK | 0.0 | 10.9 | 89.1
| MEX | 13.8 | 31.0 | 55.2
| MKK | 1.3 | 17.3 | 81.4
| TSI | 23.5 | 54.9 | 21.6
| HapMapRevision=28
}}SNPs clustered in one region of chromosome 6p22 have been linked to increased risk for the exceedingly rare childhood cancer known as [[neuroblastoma]]. A study involving 720 patients determined that [[rs6939340]](G;G) genotypes had increased likelihood of [[neuroblastoma]] development (odds ratio 1.97, CI: 1.58 to 2.45, p=9.3 x 10<sup>-15</sup>). At-risk homozygotes diagnosed with [[neuroblastoma]] had, on average, more malignant clinical presentation, more aggressive disease, and poorer long-term survival.{{PMID|18463370|OA=1
}} 

Presumably driven primarily by the at-risk homozygotes, the [[rs6939340]](G) allele was considered to be a risk factor, however, there was insufficient data to conclude whether [[rs6939340]](A;G) heterozygotes were actually at any increased risk compared to [[rs6939340]](A;A) "wild-type" homozygotes.{{PMID|18463370|OA=1
}}

Note that this is an excellent example for putting SNP-associated risks in a relative context of [[Lifetime Risk]]. The annual mortality rate for [[neuroblastoma]] for everyone combined is 10 per 1 million children in the 0- to 4-year-old age group. Assuming the ~20% of children with the most "at-risk" genotype identified to date, i.e. [[rs6939340]](G;G) homozygotes, have double the risk of the other genotypes, which means their mortality risk has only gone up to ~17 per million, versus the risk for the 80% of individuals with other genotypes going down to ~9 per million. Even if these studies are successfully replicated, odds of 17 out of a million are very very small, so these studies are not useful in predicting disease, even if they may ultimately have benefit in the management of individuals diagnosed with disease.

{{GWAS Summary
|SNP=rs6939340
|PubMedID=18463370
|Condition=Neuroblastoma
|Gene=FLJ22536, FLJ44180
|Risk Allele=G
|pValue=9.00E-015
|OR=1.37
|95CI=1.27-1.49
|OA=1
}}

{{omim
|id=256700
|desc=NEUROBLASTOMA
|rsnum=6939340
}}

{{PharmGKB
|RSID=rs6939340
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18463370; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma (Initial Sample Size: 1,032 cases, 2,043 controls; Replication Sample Size: 720 cases, 2,128 controls; Risk Allele: rs6939340-G).
|Drugs=
|Drug Classes=
|Diseases=Neuroblastoma
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356796
}}

{{PharmGKB
|RSID=rs6939340
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:18463370
|Annotation=This variant is located at chromosome 6p22, which contains the predicted genes FLJ2236 and FLJ44180. The SNP is significantly associated with an increased likelihood of the development of neuroblastoma. Patients with neuroblastoma who are homozygous for the risk allele were more likely to have metastatic disease.
|Drugs=
|Drug Classes=
|Diseases=Neuroblastoma
|Curation Level=Curated
|PharmGKB Accession ID=PA161845794
}}

{{omim
|id=613015
|rsnum=6939340
}}

{{PMID|19412175|OA=1
}} Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6939340
|overall_frequency_n=82
|overall_frequency_d=126
|overall_frequency=0.650794
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=71
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}