rs377767327

Orientation

plus

Stabilized

plus

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

Make rs377767327(A;G)

Make rs377767327(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51049289

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767327
dbSNP (classic)	rs377767327
ClinGen	rs377767327
ebi	rs377767327
HLI	rs377767327
Exac	rs377767327
Gnomad	rs377767327
Varsome	rs377767327
LitVar	rs377767327
Map	rs377767327
PheGenI	rs377767327
Biobank	rs377767327
1000 genomes	rs377767327
hgdp	rs377767327
ensembl	rs377767327
geneview	rs377767327
scholar	rs377767327
google	rs377767327
pharmgkb	rs377767327
gwascentral	rs377767327
openSNP	rs377767327
23andMe	rs377767327
SNPshot	rs377767327
SNPdbe	rs377767327
MSV3d	rs377767327
GWAS Ctlg	rs377767327

Max Magnitude

0

ClinVar
Risk	rs377767327(G;G)
Alt	rs377767327(G;G)
Reference	Rs377767327(A;A)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome not specified
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome not specified
Reversed	0
HGVS	NC_000018.9:g.48575659A>G
CLNSRC	ARUP SMAD4
CLNACC	RCV000021683.1, RCV000235856.1,

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