rs377767339

Orientation

plus

Stabilized

plus

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

Make rs377767339(C;C)

Make rs377767339(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065437

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767339
dbSNP (classic)	rs377767339
ClinGen	rs377767339
ebi	rs377767339
HLI	rs377767339
Exac	rs377767339
Gnomad	rs377767339
Varsome	rs377767339
LitVar	rs377767339
Map	rs377767339
PheGenI	rs377767339
Biobank	rs377767339
1000 genomes	rs377767339
hgdp	rs377767339
ensembl	rs377767339
geneview	rs377767339
scholar	rs377767339
google	rs377767339
pharmgkb	rs377767339
gwascentral	rs377767339
openSNP	rs377767339
23andMe	rs377767339
SNPshot	rs377767339
SNPdbe	rs377767339
MSV3d	rs377767339
GWAS Ctlg	rs377767339

Max Magnitude

0

ClinVar
Risk	rs377767339(C;C)
Alt	rs377767339(C;C)
Reference	Rs377767339(T;T)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome not specified
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome not specified
Reversed	0
HGVS	NC_000018.9:g.48591807T>C
CLNSRC	ARUP SMAD4
CLNACC	RCV000021699.1, RCV000236187.1,

[PMID 18178612] Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.