rs377767330

Orientation

plus

Stabilized

plus

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

Make rs377767330(-;-)

Make rs377767330(-;GTCCACTGAAGG)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51054842

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767330
dbSNP (classic)	rs377767330
ClinGen	rs377767330
ebi	rs377767330
HLI	rs377767330
Exac	rs377767330
Gnomad	rs377767330
Varsome	rs377767330
LitVar	rs377767330
Map	rs377767330
PheGenI	rs377767330
Biobank	rs377767330
1000 genomes	rs377767330
hgdp	rs377767330
ensembl	rs377767330
geneview	rs377767330
scholar	rs377767330
google	rs377767330
pharmgkb	rs377767330
gwascentral	rs377767330
openSNP	rs377767330
23andMe	rs377767330
SNPshot	rs377767330
SNPdbe	rs377767330
MSV3d	rs377767330
GWAS Ctlg	rs377767330

Max Magnitude

0

ClinVar
Risk	rs377767330(-;-)
Alt	rs377767330(-;-)
Reference	Rs377767330(GTCCACTGAAGG;GTCCACTGAAGG)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome
Reversed	0
HGVS	NC_000018.9:g.48581212_48581223delGTCCACTGAAGG
CLNSRC	ClinVar
CLNACC	RCV000021686.1,

[PMID 10764709] Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.