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rs121912581

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4
(G;G) 0 common in clinvar


Make rs121912581(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065521
GeneSMAD4
is asnp
is mentioned by
dbSNPrs121912581
ebirs121912581
HLIrs121912581
Exacrs121912581
Varsomers121912581
Maprs121912581
PheGenIrs121912581
hapmaprs121912581
1000 genomesrs121912581
hgdprs121912581
ensemblrs121912581
gopubmedrs121912581
geneviewrs121912581
scholarrs121912581
googlers121912581
pharmgkbrs121912581
gwascentralrs121912581
openSNPrs121912581
23andMers121912581
23andMe allrs121912581
SNP Nexus

SNPshotrs121912581
SNPdbers121912581
MSV3drs121912581
GWAS Ctlgrs121912581
Merged fromRs28936394
Max Magnitude4
OMIM600993
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912581(A;A)
Alt rs121912581(A;A)
Reference rs121912581(G;G)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT not provided
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT not provided
Reversed 0
HGVS NC_000018.9:g.48591891G>A
CLNSRC ARUP SMAD4 OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009075.2, RCV000021707.1, RCV000059731.1,


[PMID 12417513] Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.


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