{{Rsnum
|rsid=2742234
|Gene=RET
|Chromosome=10
|position=43612609
|Orientation=plus
|GMAF=0.3058
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 7.1 | 32.7 | 60.2
| HCB | 29.2 | 48.2 | 22.6
| JPT | 31.0 | 48.7 | 20.4
| YRI | 2.7 | 32.7 | 64.6
| ASW | 5.3 | 40.4 | 54.4
| CHB | 29.2 | 48.2 | 22.6
| CHD | 27.8 | 48.1 | 24.1
| GIH | 17.2 | 51.5 | 31.3
| LWK | 0.9 | 33.6 | 65.5
| MEX | 3.6 | 25.0 | 71.4
| MKK | 4.5 | 36.5 | 59.0
| TSI | 5.9 | 32.4 | 61.8
| HapMapRevision=28
}}{{PMID Auto GWAS
|PMID=19196962
|Trait=Hirschsprung's disease
|Title=Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
|RiskAllele=T
|Pval=4E-18
|OR=NR
|ORtxt=NR
|OA=1
}}

{{PharmGKB
|RSID=rs2742234
|Name_s=
|Gene_s=RET
|Feature=
|Evidence=PubMed ID:19196962; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. (Initial Sample Size: 181 Chinese cases, 346 Chinese controls; Replication Sample Size: 190 Chinese cases, 510 Chinese controls); (Region: 10q21.1; Reported Gene(s): RET, GALNACT-2, RASGEF1A; Risk Allele: rs2742234-T); (p-value= 0.000000000000000004).This variant is associated with Hirschsprung's disease.
|Drugs=
|Drug Classes=
|Diseases=Hirschsprung Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739984
}}

{{PMID|20532249|OA=1
}} Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2742234
|overall_frequency_n=97
|overall_frequency_d=128
|overall_frequency=0.757812
|n_genomes=48
|n_genomes_annotated=0
|n_haplomes=81
|n_articles=0
|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 | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}