rs2435357
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | slightly higher (2x?) risk for Hirschsprung disease |
| (A;G) | 0 | normal |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43086608 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2435357 |
| dbSNP (classic) | rs2435357 |
| ClinGen | rs2435357 |
| ebi | rs2435357 |
| HLI | rs2435357 |
| Exac | rs2435357 |
| Gnomad | rs2435357 |
| Varsome | rs2435357 |
| LitVar | rs2435357 |
| Map | rs2435357 |
| PheGenI | rs2435357 |
| Biobank | rs2435357 |
| 1000 genomes | rs2435357 |
| hgdp | rs2435357 |
| ensembl | rs2435357 |
| geneview | rs2435357 |
| scholar | rs2435357 |
| rs2435357 | |
| pharmgkb | rs2435357 |
| gwascentral | rs2435357 |
| openSNP | rs2435357 |
| 23andMe | rs2435357 |
| SNPshot | rs2435357 |
| SNPdbe | rs2435357 |
| MSV3d | rs2435357 |
| GWAS Ctlg | rs2435357 |
| GMAF | 0.2507 |
| Max Magnitude | 1 |
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
| ClinVar | |
|---|---|
| Risk | Rs2435357(G;G) |
| Alt | Rs2435357(G;G) |
| Reference | Rs2435357(A;A) |
| Significance | Other |
| Disease | Hirschsprung disease 1 |
| Variation | info |
| Gene | RET |
| CLNDBN | Hirschsprung disease 1 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.43582056T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014980.3, |
[PMID 25475805] Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease
[PMID 28256518] Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.
