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rs2742234

From SNPedia

Orientationplus
Stabilizedplus
Make rs2742234(C;C)
Make rs2742234(C;T)
Make rs2742234(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position43117161
GeneRET
is asnp
is mentioned by
dbSNPrs2742234
ebirs2742234
HLIrs2742234
Exacrs2742234
Varsomers2742234
Maprs2742234
PheGenIrs2742234
hapmaprs2742234
1000 genomesrs2742234
hgdprs2742234
ensemblrs2742234
gopubmedrs2742234
geneviewrs2742234
scholarrs2742234
googlers2742234
pharmgkbrs2742234
gwascentralrs2742234
openSNPrs2742234
23andMers2742234
23andMe allrs2742234
SNP Nexus

SNPshotrs2742234
SNPdbers2742234
MSV3drs2742234
GWAS Ctlgrs2742234
GMAF0.3058
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19196962OA-icon.png]
Trait Hirschsprung's disease
Title Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Risk Allele T
P-val 4E-18
Odds Ratio NR NR


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


GET Evidence
rs2742234
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.757812
summary