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rs2435357

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1 slightly higher (2x?) risk for Hirschsprung disease
(A;G) 0 normal
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome10
Position43086608
GeneRET
is asnp
is mentioned by
dbSNPrs2435357
ebirs2435357
HLIrs2435357
Exacrs2435357
Varsomers2435357
Maprs2435357
PheGenIrs2435357
hapmaprs2435357
1000 genomesrs2435357
hgdprs2435357
ensemblrs2435357
gopubmedrs2435357
geneviewrs2435357
scholarrs2435357
googlers2435357
pharmgkbrs2435357
gwascentralrs2435357
openSNPrs2435357
23andMers2435357
23andMe allrs2435357
SNP Nexus

SNPshotrs2435357
SNPdbers2435357
MSV3drs2435357
GWAS Ctlgrs2435357
GMAF0.2507
Max Magnitude1
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 19196962OA-icon.png] Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

OMIM164761
DescREARRANGED DURING TRANSFECTION PROTOONCOGENE; RET
Variant
Relatedalso
OMIM164761
Desc
Variant0050
Relatedalso


[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 18248681OA-icon.png] Prevalence of common disease-associated variants in Asian Indians.


[PMID 19306335OA-icon.png] 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 20361209OA-icon.png] Fine mapping of the 9q31 Hirschsprung's disease locus.


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


[PMID 20598273OA-icon.png] 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 21283760OA-icon.png] Fine mapping of the NRG1 Hirschsprung's disease locus.


[PMID 23088776OA-icon.png] Absence of the RET+3:T allele in the MTC patients


[PMID 24897126OA-icon.png] 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 RCV000014980.2,



[PMID 25475805OA-icon.png] Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease