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rs377767341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs377767341(-;T)
Make rs377767341(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065449
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767341
dbSNP (classic)rs377767341
ClinGenrs377767341
ebirs377767341
HLIrs377767341
Exacrs377767341
Gnomadrs377767341
Varsomers377767341
LitVarrs377767341
Maprs377767341
PheGenIrs377767341
Biobankrs377767341
1000 genomesrs377767341
hgdprs377767341
ensemblrs377767341
geneviewrs377767341
scholarrs377767341
googlers377767341
pharmgkbrs377767341
gwascentralrs377767341
openSNPrs377767341
23andMers377767341
SNPshotrs377767341
SNPdbers377767341
MSV3drs377767341
GWAS Ctlgrs377767341
Max Magnitude0
ClinVar
Risk rs377767341(T;T)
Alt rs377767341(T;T)
Reference Rs377767341(-;-)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48591819dupT
CLNSRC ClinVar
CLNACC RCV000021701.1,


[PMID 16436638OA-icon.png] Mutation screening in juvenile polyposis syndrome.