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rs281875324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875324(A;G)
Make rs281875324(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065456
GeneSMAD4
is asnp
is mentioned by
dbSNPrs281875324
ebirs281875324
HLIrs281875324
Exacrs281875324
Varsomers281875324
Maprs281875324
PheGenIrs281875324
hapmaprs281875324
1000 genomesrs281875324
hgdprs281875324
ensemblrs281875324
gopubmedrs281875324
geneviewrs281875324
scholarrs281875324
googlers281875324
pharmgkbrs281875324
gwascentralrs281875324
openSNPrs281875324
23andMers281875324
23andMe allrs281875324
SNP Nexus

SNPshotrs281875324
SNPdbers281875324
MSV3drs281875324
GWAS Ctlgrs281875324
Max Magnitude0
ClinVar
Risk rs281875324(G;G)
Alt rs281875324(G;G)
Reference rs281875324(A;A)
Significance Pathogenic
Disease Juvenile polyposis syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48591826A>G
CLNSRC ARUP SMAD4 UniProtKB (variants)
CLNACC RCV000021704.1, RCV000059737.1, RCV000129952.2,


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