rs281875324

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5.1	Juvenile polyposis syndrome

Make rs281875324(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065456

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs281875324
dbSNP (classic)	rs281875324
ClinGen	rs281875324
ebi	rs281875324
HLI	rs281875324
Exac	rs281875324
Gnomad	rs281875324
Varsome	rs281875324
LitVar	rs281875324
Map	rs281875324
PheGenI	rs281875324
Biobank	rs281875324
1000 genomes	rs281875324
hgdp	rs281875324
ensembl	rs281875324
geneview	rs281875324
scholar	rs281875324
google	rs281875324
pharmgkb	rs281875324
gwascentral	rs281875324
openSNP	rs281875324
23andMe	rs281875324
SNPshot	rs281875324
SNPdbe	rs281875324
MSV3d	rs281875324
GWAS Ctlg	rs281875324

Max Magnitude

5.1

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.