rs377767334

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;G)	5.1

Make rs377767334(G;G)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51058149

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767334
dbSNP (classic)	rs377767334
ClinGen	rs377767334
ebi	rs377767334
HLI	rs377767334
Exac	rs377767334
Gnomad	rs377767334
Varsome	rs377767334
LitVar	rs377767334
Map	rs377767334
PheGenI	rs377767334
Biobank	rs377767334
1000 genomes	rs377767334
hgdp	rs377767334
ensembl	rs377767334
geneview	rs377767334
scholar	rs377767334
google	rs377767334
pharmgkb	rs377767334
gwascentral	rs377767334
openSNP	rs377767334
23andMe	rs377767334
SNPshot	rs377767334
SNPdbe	rs377767334
MSV3d	rs377767334
GWAS Ctlg	rs377767334

Max Magnitude

5.1

ClinVar
Risk	rs377767334(G;G)
Alt	rs377767334(G;G)
Reference	Rs377767334(-;-)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000018.9:g.48584519dupG
CLNSRC	ClinVar
CLNACC	RCV000021691.1, RCV000021692.1, RCV000214505.1,

[PMID 9582123] Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

[PMID 20101697] Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.