rs377767333

Orientation

plus

Stabilized

plus

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

Make rs377767333(-;-)

Make rs377767333(-;C)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51054934

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767333
dbSNP (classic)	rs377767333
ClinGen	rs377767333
ebi	rs377767333
HLI	rs377767333
Exac	rs377767333
Gnomad	rs377767333
Varsome	rs377767333
LitVar	rs377767333
Map	rs377767333
PheGenI	rs377767333
Biobank	rs377767333
1000 genomes	rs377767333
hgdp	rs377767333
ensembl	rs377767333
geneview	rs377767333
scholar	rs377767333
google	rs377767333
pharmgkb	rs377767333
gwascentral	rs377767333
openSNP	rs377767333
23andMe	rs377767333
SNPshot	rs377767333
SNPdbe	rs377767333
MSV3d	rs377767333
GWAS Ctlg	rs377767333

Max Magnitude

0

ClinVar
Risk	rs377767333(-;-)
Alt	rs377767333(-;-)
Reference	Rs377767333(C;C)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome
Reversed	0
HGVS	NC_000018.9:g.48581304delC
CLNSRC	ClinVar
CLNACC	RCV000021689.1,

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