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rs377767336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs377767336(-;-)
Make rs377767336(-;AC)
ReferenceGRCh38 38.1/141
Chromosome18
Position51058381
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767336
ebirs377767336
HLIrs377767336
Exacrs377767336
Varsomers377767336
Maprs377767336
PheGenIrs377767336
hapmaprs377767336
1000 genomesrs377767336
hgdprs377767336
ensemblrs377767336
gopubmedrs377767336
geneviewrs377767336
scholarrs377767336
googlers377767336
pharmgkbrs377767336
gwascentralrs377767336
openSNPrs377767336
23andMers377767336
23andMe allrs377767336
SNP Nexus

SNPshotrs377767336
SNPdbers377767336
MSV3drs377767336
GWAS Ctlgrs377767336
Max Magnitude0
ClinVar
Risk rs377767336(;)
Alt rs377767336(;)
Reference rs377767336(AC;AC)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48584753_48584754delAC
CLNSRC ClinVar
CLNACC RCV000021696.2,


[PMID 10398437] Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients.