This SNP, located in the first intron of the RET gene, has been associated with Hirschsprung disease. The risk allele (in dbSNP orientation) is rs2435357(A), with greater affect in males. [PMID 15829955]

[PMID 19196962] Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

[PMID 22325379] Intronic RET gene variants in Down syndrome-associated Hirschsprung disease in an African population

[PMID 22377709] Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients

[PMID 17091122] Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.

[PMID 19306335] Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

[PMID 20089534] Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease.

[PMID 20361209] Fine mapping of the 9q31 Hirschsprung's disease locus.

[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

[PMID 20598273] Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

[PMID 20977903] Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.

[PMID 21283760] Fine mapping of the NRG1 Hirschsprung's disease locus.

[PMID 23088776] Absence of the RET+3:T allele in the MTC patients

[PMID 24897126] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

[PMID 25475805] Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease


Parent Gene: RET

Importance: 1
Less common allele: T = 24%
More common allele: C = 76%
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