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rs377767328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs377767328(-;-)
Make rs377767328(-;TC)
ReferenceGRCh38 38.1/141
Chromosome18
Position51049300
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767328
ebirs377767328
HLIrs377767328
Exacrs377767328
Varsomers377767328
Maprs377767328
PheGenIrs377767328
hapmaprs377767328
1000 genomesrs377767328
hgdprs377767328
ensemblrs377767328
gopubmedrs377767328
geneviewrs377767328
scholarrs377767328
googlers377767328
pharmgkbrs377767328
gwascentralrs377767328
openSNPrs377767328
23andMers377767328
23andMe allrs377767328
SNP Nexus

SNPshotrs377767328
SNPdbers377767328
MSV3drs377767328
GWAS Ctlgrs377767328
Max Magnitude0
ClinVar
Risk rs377767328(;)
Alt rs377767328(;)
Reference rs377767328(TC;TC)
Significance Pathogenic
Disease Juvenile polyposis syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000018.9:g.48575670_48575671delTC
CLNSRC ClinVar
CLNACC RCV000021684.1, RCV000216645.1,


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