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rs377767338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs377767338(-;GCAT)
Make rs377767338(GCAT;GCAT)
ReferenceGRCh38 38.1/141
Chromosome18
Position51059889
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767338
dbSNP (classic)rs377767338
ClinGenrs377767338
ebirs377767338
HLIrs377767338
Exacrs377767338
Gnomadrs377767338
Varsomers377767338
LitVarrs377767338
Maprs377767338
PheGenIrs377767338
Biobankrs377767338
1000 genomesrs377767338
hgdprs377767338
ensemblrs377767338
geneviewrs377767338
scholarrs377767338
googlers377767338
pharmgkbrs377767338
gwascentralrs377767338
openSNPrs377767338
23andMers377767338
SNPshotrs377767338
SNPdbers377767338
MSV3drs377767338
GWAS Ctlgrs377767338
Max Magnitude0
ClinVar
Risk rs377767338(TGCA;TGCA)
Alt rs377767338(TGCA;TGCA)
Reference Rs377767338(-;-)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48586256_48586259dupGCAT
CLNSRC ClinVar
CLNACC RCV000021698.1,


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