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rs1057519052

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519052(-;-)
Make rs1057519052(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position141168410
GeneDENND3
is asnp
is mentioned by
dbSNPrs1057519052
dbSNP (old)rs1057519052
ClinGenrs1057519052
ebirs1057519052
HLIrs1057519052
Exacrs1057519052
Gnomadrs1057519052
Varsomers1057519052
Maprs1057519052
PheGenIrs1057519052
Biobankrs1057519052
1000 genomesrs1057519052
hgdprs1057519052
ensemblrs1057519052
gopubmedrs1057519052
geneviewrs1057519052
scholarrs1057519052
googlers1057519052
pharmgkbrs1057519052
gwascentralrs1057519052
openSNPrs1057519052
23andMers1057519052
23andMe allrs1057519052
SNPshotrs1057519052
SNPdbers1057519052
MSV3drs1057519052
GWAS Ctlgrs1057519052
Max Magnitude0
ClinVar
Risk rs1057519052(-;-)
Alt rs1057519052(-;-)
Reference Rs1057519052(G;G)
Significance Probable-Pathogenic
Disease Hirschsprung disease 1
Variation info
Gene DENND3
CLNDBN Hirschsprung disease 1
Reversed 0
HGVS NC_000008.10:g.142178509delG
CLNSRC
CLNACC RCV000416370.1,