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rs377767333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377767333(-;-)
Make rs377767333(-;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position51054934
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767333
ebirs377767333
HLIrs377767333
Exacrs377767333
Varsomers377767333
Maprs377767333
PheGenIrs377767333
hapmaprs377767333
1000 genomesrs377767333
hgdprs377767333
ensemblrs377767333
gopubmedrs377767333
geneviewrs377767333
scholarrs377767333
googlers377767333
pharmgkbrs377767333
gwascentralrs377767333
openSNPrs377767333
23andMers377767333
23andMe allrs377767333
SNP Nexus

SNPshotrs377767333
SNPdbers377767333
MSV3drs377767333
GWAS Ctlgrs377767333
Max Magnitude0
ClinVar
Risk rs377767333(;)
Alt rs377767333(;)
Reference rs377767333(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48581304delC
CLNSRC ClinVar
CLNACC RCV000021689.1,


[PMID 12417513] Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.