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rs377767379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
(CC;T) 4
Make rs377767379(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078404
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767379
ebirs377767379
HLIrs377767379
Exacrs377767379
Varsomers377767379
Maprs377767379
PheGenIrs377767379
hapmaprs377767379
1000 genomesrs377767379
hgdprs377767379
ensemblrs377767379
gopubmedrs377767379
geneviewrs377767379
scholarrs377767379
googlers377767379
pharmgkbrs377767379
gwascentralrs377767379
openSNPrs377767379
23andMers377767379
23andMe allrs377767379
SNP Nexus

SNPshotrs377767379
SNPdbers377767379
MSV3drs377767379
GWAS Ctlgrs377767379
Max Magnitude4
ClinVar
Risk rs377767379(T;T)
Alt rs377767379(T;T)
Reference Rs377767379(CC;CC)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Reversed 0
HGVS NC_000018.9:g.48604774_48604775delCCinsT
CLNSRC ClinVar
CLNACC RCV000021752.1,


[PMID 16613914OA-icon.png] SMAD4 mutations found in unselected HHT patients.