rs377767343

Orientation

plus

Stabilized

plus

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

Make rs377767343(-;-)

Make rs377767343(-;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065504

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767343
dbSNP (classic)	rs377767343
ClinGen	rs377767343
ebi	rs377767343
HLI	rs377767343
Exac	rs377767343
Gnomad	rs377767343
Varsome	rs377767343
LitVar	rs377767343
Map	rs377767343
PheGenI	rs377767343
Biobank	rs377767343
1000 genomes	rs377767343
hgdp	rs377767343
ensembl	rs377767343
geneview	rs377767343
scholar	rs377767343
google	rs377767343
pharmgkb	rs377767343
gwascentral	rs377767343
openSNP	rs377767343
23andMe	rs377767343
SNPshot	rs377767343
SNPdbe	rs377767343
MSV3d	rs377767343
GWAS Ctlg	rs377767343

Max Magnitude

0

ClinVar
Risk	rs377767343(-;-)
Alt	rs377767343(-;-)
Reference	Rs377767343(C;C)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome
Reversed	0
HGVS	NC_000018.9:g.48591874delC
CLNSRC	ClinVar
CLNACC	RCV000021705.1,

[PMID 12417513] Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.