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rs377767374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs377767374(-;-)
Make rs377767374(-;CC)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078372
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767374
ebirs377767374
HLIrs377767374
Exacrs377767374
Varsomers377767374
Maprs377767374
PheGenIrs377767374
hapmaprs377767374
1000 genomesrs377767374
hgdprs377767374
ensemblrs377767374
gopubmedrs377767374
geneviewrs377767374
scholarrs377767374
googlers377767374
pharmgkbrs377767374
gwascentralrs377767374
openSNPrs377767374
23andMers377767374
23andMe allrs377767374
SNP Nexus

SNPshotrs377767374
SNPdbers377767374
MSV3drs377767374
GWAS Ctlgrs377767374
Max Magnitude0
ClinVar
Risk rs377767374(;)
Alt rs377767374(;)
Reference rs377767374(CC;CC)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48604742_48604743delCC
CLNSRC ClinVar
CLNACC RCV000021746.1,


[PMID 10764709OA-icon.png] Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.