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rs377767385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GAAGTACTTCATAC) 4
(ACGAAGTACTTCAT;ACGAAGTACTTCAT) 0 common in clinvar
(GAAGTACTTCATAC;GAAGTACTTCATAC) 0 common in clinvar


Make rs377767385(-;-)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078420
GeneSMAD4
is asnp
is mentioned by
dbSNPrs377767385
ebirs377767385
HLIrs377767385
Exacrs377767385
Varsomers377767385
Maprs377767385
PheGenIrs377767385
hapmaprs377767385
1000 genomesrs377767385
hgdprs377767385
ensemblrs377767385
gopubmedrs377767385
geneviewrs377767385
scholarrs377767385
googlers377767385
pharmgkbrs377767385
gwascentralrs377767385
openSNPrs377767385
23andMers377767385
23andMe allrs377767385
SNP Nexus

SNPshotrs377767385
SNPdbers377767385
MSV3drs377767385
GWAS Ctlgrs377767385
Max Magnitude4
ClinVar
Risk rs377767385(;)
Alt rs377767385(;)
Reference rs377767385(ACGAAGTACTTCAT;ACGAAGTACTTCAT)
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.48604790_48604803delGAAGTACTTCATAC
CLNSRC ClinVar
CLNACC RCV000021759.1,


[PMID 15031030] A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).