rs377767360

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.1

Make rs377767360(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51076662

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767360
dbSNP (classic)	rs377767360
ClinGen	rs377767360
ebi	rs377767360
HLI	rs377767360
Exac	rs377767360
Gnomad	rs377767360
Varsome	rs377767360
LitVar	rs377767360
Map	rs377767360
PheGenI	rs377767360
Biobank	rs377767360
1000 genomes	rs377767360
hgdp	rs377767360
ensembl	rs377767360
geneview	rs377767360
scholar	rs377767360
google	rs377767360
pharmgkb	rs377767360
gwascentral	rs377767360
openSNP	rs377767360
23andMe	rs377767360
SNPshot	rs377767360
SNPdbe	rs377767360
MSV3d	rs377767360
GWAS Ctlg	rs377767360

Max Magnitude

5.1

ClinVar
Risk	rs377767360(T;T)
Alt	rs377767360(T;T)
Reference	Rs377767360(C;C)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000018.9:g.48603032C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000021731.1, RCV000023059.2, RCV000163892.2, RCV000493396.1,

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