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rs397518413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518413(C;T)
Make rs397518413(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078294
GeneSMAD4
is asnp
is mentioned by
dbSNPrs397518413
ebirs397518413
HLIrs397518413
Exacrs397518413
Varsomers397518413
Maprs397518413
PheGenIrs397518413
hapmaprs397518413
1000 genomesrs397518413
hgdprs397518413
ensemblrs397518413
gopubmedrs397518413
geneviewrs397518413
scholarrs397518413
googlers397518413
pharmgkbrs397518413
gwascentralrs397518413
openSNPrs397518413
23andMers397518413
23andMe allrs397518413
SNP Nexus

SNPshotrs397518413
SNPdbers397518413
MSV3drs397518413
GWAS Ctlgrs397518413
Max Magnitude0
ClinVar
Risk rs397518413(T;T)
Alt rs397518413(T;T)
Reference rs397518413(C;C)
Significance Pathogenic
Disease Myhre syndrome not provided
Variation info
Gene SMAD4
CLNDBN Myhre syndrome not provided
Reversed 0
HGVS NC_000018.9:g.48604664C>T
CLNSRC ClinVar
CLNACC RCV000074360.2, RCV000160962.2,