rs377767329

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs377767329(A;A)

Make rs377767329(A;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51049307

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767329
dbSNP (classic)	rs377767329
ClinGen	rs377767329
ebi	rs377767329
HLI	rs377767329
Exac	rs377767329
Gnomad	rs377767329
Varsome	rs377767329
LitVar	rs377767329
Map	rs377767329
PheGenI	rs377767329
Biobank	rs377767329
1000 genomes	rs377767329
hgdp	rs377767329
ensembl	rs377767329
geneview	rs377767329
scholar	rs377767329
google	rs377767329
pharmgkb	rs377767329
gwascentral	rs377767329
openSNP	rs377767329
23andMe	rs377767329
SNPshot	rs377767329
SNPdbe	rs377767329
MSV3d	rs377767329
GWAS Ctlg	rs377767329

Max Magnitude

0

ClinVar
Risk	rs377767329(A;A) rs377767329(G;G)
Alt	rs377767329(A;A) rs377767329(G;G)
Reference	Rs377767329(T;T)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome
Reversed	0
HGVS	NC_000018.9:g.48575677T>A
CLNSRC	ARUP SMAD4
CLNACC	RCV000021685.1,

[PMID 17873119 ] High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.