Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Furthermore, individuals with five or six risk alleles at RET rs2506030, rs2435357 and NRG1 rs7835688 showed ∼45-fold higher HSCR risk than those with 0 or 1 or 2 risk alleles. 30502294

2019

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation GWASCAT Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease. 30031151

2019

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease. 30031151

2019

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE RET rs2506030 (GG genotype) and rs2435357 (TT genotype), in combination with NRG1 rs2439302 (GG genotype), were strongly associated with the highest risk of HSCR (OR = 56.53, P = 4.50E-07) compared with the two loci or a single SNP of either RET or NRG1. 28256518

2017

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Our results strengthen the proof that the RET rs2435357 variant is a genetic risk for HSCR in Indonesia. 27338539

2016

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE RET rs2435357 also showed significant frequency differences by gender, segment length of aganglionosis and familiality. 25666438

2015

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Colon tissue DNA samples showed similar frequency of SNPs as that of the blood DNA samples in HSCR patients, both of which are significantly higher than the control blood group (rs2435357 TT genotype: 71.2%, 74.7% versus 22.0% in HSCR blood, HSCR colon and control blood DNA respectively, P=0.000; rs2506004 AA genotype: 72.4%, 83.1% versus 25.5%, P=0.000; rs2506030 GG genotype: 79.7%, 77.2% versus 54.2%, P=0.000 and 0.004). 26191260

2015

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Two locus analyses of variants showed significant interactions with increased and decreased disease risks of HSCR at NRG1 but conditional on rs2435357 genotype. 25475805

2014

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Particularly variant alleles of rs1864410, rs2435357, rs2506004 (intron 1), rs1800858 (exon 2), rs1800861 (exon 13), and rs2565200 (intron 19) were strongly associated with increased risk of HSCR (p<0.00000) and were over-represented in males vs. females. 24897126

2014

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found. 24845202

2014

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE This study focuses on variations of specific RET intron, 1 SNPs (viz, SNP1 [rs2506004] and SNP2 [rs2435357]) in DS-HD. 22325379

2012

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE The RET-protooncogene rs2435357 (TT genotype) in combination with the NRG1 rs2439305 (GG genotype) was strongly associated with an increased risk of HSCR with a P-value of 1.99E-04 (OR=20.34, 95% CI; 2.54-162.78) when compared with a single SNP of the RET-protooncogene or NRG1. 22377709

2012

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE In addition Taqman technology was applied for the genotyping of 3 RET CVs previously associated to HSCR, including a variant lying in an enhancer domain within RET intron 1 (rs2435357). 21995290

2011

dbSNP: rs2435357
rs2435357
RET
0.900 GeneticVariation BEFREE Two noncoding variations in RET-the T allele of the single nucleotide polymorphism (SNP) rs2435357 (Enh1:C>T) and the A allele of the SNP rs2506004 (Enh2:C>A)-are associated with Hirschsprung's disease. 20977903

2011

dbSNP: rs2435357
rs2435357
RET
C 0.900 SusceptibilityMutation CLINVAR