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rs79661516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs79661516(A;A)
Make rs79661516(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position43105018
GeneRET
is asnp
is mentioned by
dbSNPrs79661516
ebirs79661516
HLIrs79661516
Exacrs79661516
Varsomers79661516
Maprs79661516
PheGenIrs79661516
hapmaprs79661516
1000 genomesrs79661516
hgdprs79661516
ensemblrs79661516
gopubmedrs79661516
geneviewrs79661516
scholarrs79661516
googlers79661516
pharmgkbrs79661516
gwascentralrs79661516
openSNPrs79661516
23andMers79661516
23andMe allrs79661516
SNP Nexus

SNPshotrs79661516
SNPdbers79661516
MSV3drs79661516
GWAS Ctlgrs79661516
Max Magnitude0
OMIM164761
Desc
Variant0035
Relatedalso
ClinVar
Risk rs79661516(A;A)
Alt rs79661516(A;A)
Reference rs79661516(G;G)
Significance Other
Disease Hirschsprung disease 1
Variation info
Gene RET
CLNDBN Hirschsprung disease 1
Reversed 0
HGVS NC_000010.10:g.43600466G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014964.2,


[PMID 9700200] Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.