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rs3026785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) may be protective against Hirschsprung disease
(C;T) may be protective against Hirschsprung disease
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome10
Position43130238
GeneRET
is asnp
is mentioned by
dbSNPrs3026785
ebirs3026785
HLIrs3026785
Exacrs3026785
Varsomers3026785
Maprs3026785
PheGenIrs3026785
hapmaprs3026785
1000 genomesrs3026785
hgdprs3026785
ensemblrs3026785
gopubmedrs3026785
geneviewrs3026785
scholarrs3026785
googlers3026785
pharmgkbrs3026785
gwascentralrs3026785
openSNPrs3026785
23andMers3026785
23andMe allrs3026785
SNP Nexus

SNPshotrs3026785
SNPdbers3026785
MSV3drs3026785
GWAS Ctlgrs3026785
GMAF0.03398
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Associated with protection from Hirschsprung disease

See OMIM 164761.0052

OMIM164761
Desc
Variant0052
Relatedalso


ClinVar
Risk rs3026785(C;C)
Alt rs3026785(C;C)
Reference rs3026785(T;T)
Significance Other
Disease Hirschsprung disease
Variation info
Gene RET
CLNDBN Hirschsprung disease, protection against
Reversed 0
HGVS NC_000010.10:g.43625686T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014982.3,