rs377767328

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TC)	5.1	Juvenile polyposis syndrome
(TC;TC)	0	common in clinvar

Make rs377767328(-;-)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51049300

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767328
dbSNP (classic)	rs377767328
ClinGen	rs377767328
ebi	rs377767328
HLI	rs377767328
Exac	rs377767328
Gnomad	rs377767328
Varsome	rs377767328
LitVar	rs377767328
Map	rs377767328
PheGenI	rs377767328
Biobank	rs377767328
1000 genomes	rs377767328
hgdp	rs377767328
ensembl	rs377767328
geneview	rs377767328
scholar	rs377767328
google	rs377767328
pharmgkb	rs377767328
gwascentral	rs377767328
openSNP	rs377767328
23andMe	rs377767328
SNPshot	rs377767328
SNPdbe	rs377767328
MSV3d	rs377767328
GWAS Ctlg	rs377767328

Max Magnitude

5.1

ClinVar
Risk	rs377767328(-;-)
Alt	rs377767328(-;-)
Reference	Rs377767328(TC;TC)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000018.9:g.48575670_48575671delTC
CLNSRC	ClinVar
CLNACC	RCV000021684.1, RCV000216645.1,

[PMID 16436638] Mutation screening in juvenile polyposis syndrome.