Have questions? Visit https://www.reddit.com/r/SNPedia

rs281875324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5.1 Juvenile polyposis syndrome
Make rs281875324(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51065456
GeneSMAD4
is asnp
is mentioned by
dbSNPrs281875324
dbSNP (classic)rs281875324
ClinGenrs281875324
ebirs281875324
HLIrs281875324
Exacrs281875324
Gnomadrs281875324
Varsomers281875324
LitVarrs281875324
Maprs281875324
PheGenIrs281875324
Biobankrs281875324
1000 genomesrs281875324
hgdprs281875324
ensemblrs281875324
geneviewrs281875324
scholarrs281875324
googlers281875324
pharmgkbrs281875324
gwascentralrs281875324
openSNPrs281875324
23andMers281875324
SNPshotrs281875324
SNPdbers281875324
MSV3drs281875324
GWAS Ctlgrs281875324
Max Magnitude5.1
ClinVar
Risk rs281875324(C;C) rs281875324(G;G)
Alt rs281875324(C;C) rs281875324(G;G)
Reference Rs281875324(A;A)
Significance Pathogenic
Disease Colorectal Neoplasms Juvenile polyposis syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Colorectal Neoplasms Juvenile polyposis syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48591826A>C; NC_000018.9:g.48591826A>G
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000434490.1, RCV000021704.1, RCV000059737.1, RCV000129952.2,


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