Have questions? Visit https://www.reddit.com/r/SNPedia

rs377767330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTCCACTGAAGG;GTCCACTGAAGG) 0 common in clinvar
Make rs377767330(-;-)
Make rs377767330(-;GTCCACTGAAGG)
ReferenceGRCh38 38.1/141
Chromosome18
Position51054842
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767330
ebirs377767330
HLIrs377767330
Exacrs377767330
Varsomers377767330
Maprs377767330
PheGenIrs377767330
hapmaprs377767330
1000 genomesrs377767330
hgdprs377767330
ensemblrs377767330
gopubmedrs377767330
geneviewrs377767330
scholarrs377767330
googlers377767330
pharmgkbrs377767330
gwascentralrs377767330
openSNPrs377767330
23andMers377767330
23andMe allrs377767330
SNP Nexus

SNPshotrs377767330
SNPdbers377767330
MSV3drs377767330
GWAS Ctlgrs377767330
Max Magnitude0
ClinVar
Risk rs377767330(;)
Alt rs377767330(;)
Reference rs377767330(GTCCACTGAAGG;GTCCACTGAAGG)
Significance Pathogenic
Disease Juvenile polyposis syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome
Reversed 0
HGVS NC_000018.9:g.48581212_48581223delGTCCACTGAAGG
CLNSRC ClinVar
CLNACC RCV000021686.1,


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