rs377767344

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GT;GT)	0	common in clinvar
(TG;TG)	0	common in clinvar

Make rs377767344(-;-)

Make rs377767344(-;GT)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065509

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767344
dbSNP (classic)	rs377767344
ClinGen	rs377767344
ebi	rs377767344
HLI	rs377767344
Exac	rs377767344
Gnomad	rs377767344
Varsome	rs377767344
LitVar	rs377767344
Map	rs377767344
PheGenI	rs377767344
Biobank	rs377767344
1000 genomes	rs377767344
hgdp	rs377767344
ensembl	rs377767344
geneview	rs377767344
scholar	rs377767344
google	rs377767344
pharmgkb	rs377767344
gwascentral	rs377767344
openSNP	rs377767344
23andMe	rs377767344
SNPshot	rs377767344
SNPdbe	rs377767344
MSV3d	rs377767344
GWAS Ctlg	rs377767344

Max Magnitude

0

ClinVar
Risk	rs377767344(-;-)
Alt	rs377767344(-;-)
Reference	Rs377767344(TG;TG)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome
Reversed	0
HGVS	NC_000018.9:g.48591879_48591880delGT
CLNSRC	ClinVar
CLNACC	RCV000021706.1,

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