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rs1800858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 0 probably normal
(G;G) 0 may predispose somehow to Hirschsprung disease
ReferenceGRCh38 38.1/141
Chromosome10
Position43100520
GeneRET
is asnp
is mentioned by
dbSNPrs1800858
ebirs1800858
HLIrs1800858
Exacrs1800858
Varsomers1800858
Maprs1800858
PheGenIrs1800858
hapmaprs1800858
1000 genomesrs1800858
hgdprs1800858
ensemblrs1800858
gopubmedrs1800858
geneviewrs1800858
scholarrs1800858
googlers1800858
pharmgkbrs1800858
gwascentralrs1800858
openSNPrs1800858
23andMers1800858
23andMe allrs1800858
SNP Nexus

SNPshotrs1800858
SNPdbers1800858
MSV3drs1800858
GWAS Ctlgrs1800858
Merged fromRs17857727
GMAF0.2842
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM164761
DescHIRSCHSPRUNG DISEASE
Variant0038
Relatedalso
Neighborrs17857727
Distance1


[PMID 20454948] Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China


ClinVar
Risk rs1800858(G;G)
Alt rs1800858(G;G)
Reference rs1800858(A;A)
Significance Other
Disease Hirschsprung disease 1 not provided Multiple endocrine neoplasia not specified
Variation info
Gene RET
CLNDBN Hirschsprung disease 1 not provided Multiple endocrine neoplasia, type 2 not specified
Reversed 0
HGVS NC_000010.10:g.43595968A\x3d; NC_000010.10:g.43595968A>G
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000014967.2, RCV000127776.1, RCV000205827.1, RCV000216697.1, RCV000153833.3,



[PMID 15759212OA-icon.png] Identifying candidate Hirschsprung disease-associated RET variants.


[PMID 17267408OA-icon.png] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.


[PMID 18091754OA-icon.png] Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.


[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


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


[PMID 21349203OA-icon.png] Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.


[PMID 10521317OA-icon.png] Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.


[PMID 10922382OA-icon.png] RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.


[PMID 23059849] Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form


[PMID 24897126OA-icon.png] RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease