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rs80338963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs80338963(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065548
GeneSMAD4
is asnp
is mentioned by
dbSNPrs80338963
ebirs80338963
HLIrs80338963
Exacrs80338963
Varsomers80338963
Maprs80338963
PheGenIrs80338963
hapmaprs80338963
1000 genomesrs80338963
hgdprs80338963
ensemblrs80338963
gopubmedrs80338963
geneviewrs80338963
scholarrs80338963
googlers80338963
pharmgkbrs80338963
gwascentralrs80338963
openSNPrs80338963
23andMers80338963
23andMe allrs80338963
SNP Nexus

SNPshotrs80338963
SNPdbers80338963
MSV3drs80338963
GWAS Ctlgrs80338963
Max Magnitude4
OMIM600993
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338963(A,G,T;A,G,T)
Alt rs80338963(A,G,T;A,G,T)
Reference rs80338963(C;C)
Significance Pathogenic
Disease Juvenile polyposis syndrome JP and JP/HHT Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP not provided Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome JP and JP/HHT Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP, JP/HHT, and HHT not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48591918C>A; NC_000018.9:g.48591918C>G; NC_000018.9:g.48591918C>T
CLNSRC ARUP SMAD4 OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000021702.1, RCV000021710.1, RCV000009071.2, RCV000009072.2, RCV000021711.1, RCV000059732.1, RCV000160961.1,


[PMID 8898652] Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.

[PMID 9285566] Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas.

[PMID 9582123] Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

[PMID 9811934] Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. [PMID 15235019OA-icon.png] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.


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