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rs79853121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79853121(C;T)
Make rs79853121(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position43126651
GeneRET
is asnp
is mentioned by
dbSNPrs79853121
ebirs79853121
HLIrs79853121
Exacrs79853121
Varsomers79853121
Maprs79853121
PheGenIrs79853121
hapmaprs79853121
1000 genomesrs79853121
hgdprs79853121
ensemblrs79853121
gopubmedrs79853121
geneviewrs79853121
scholarrs79853121
googlers79853121
pharmgkbrs79853121
gwascentralrs79853121
openSNPrs79853121
23andMers79853121
23andMe allrs79853121
SNP Nexus

SNPshotrs79853121
SNPdbers79853121
MSV3drs79853121
GWAS Ctlgrs79853121
Max Magnitude0
OMIM164761
Desc
Variant0046
Relatedalso
ClinVar
Risk rs79853121(A,T;A,T)
Alt rs79853121(A,T;A,T)
Reference rs79853121(C;C)
Significance Pathogenic
Disease not specified Central hypoventilation syndrome Hirschsprung's disease
Variation info
Gene RET
CLNDBN not specified Central hypoventilation syndrome, congenital, with hirschsprung disease Hirschsprung's disease
Reversed 0
HGVS NC_000010.10:g.43622099C>A; NC_000010.10:g.43622099C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000121984.1, RCV000014975.25, RCV000148783.1,


[PMID 9497256OA-icon.png] Mutations of the RET-GDNF signaling pathway in Ondine's curse.