rs377767345

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4
(G;G)	0	common in clinvar

Make rs377767345(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065522

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767345
dbSNP (classic)	rs377767345
ClinGen	rs377767345
ebi	rs377767345
HLI	rs377767345
Exac	rs377767345
Gnomad	rs377767345
Varsome	rs377767345
LitVar	rs377767345
Map	rs377767345
PheGenI	rs377767345
Biobank	rs377767345
1000 genomes	rs377767345
hgdp	rs377767345
ensembl	rs377767345
geneview	rs377767345
scholar	rs377767345
google	rs377767345
pharmgkb	rs377767345
gwascentral	rs377767345
openSNP	rs377767345
23andMe	rs377767345
SNPshot	rs377767345
SNPdbe	rs377767345
MSV3d	rs377767345
GWAS Ctlg	rs377767345

Max Magnitude

4

ClinVar
Risk	rs377767345(A;A)
Alt	rs377767345(A;A)
Reference	Rs377767345(G;G)
Significance	Pathogenic
Disease	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Reversed	0
HGVS	NC_000018.9:g.48591892G>A
CLNSRC	ARUP SMAD4
CLNACC	RCV000021708.1,

[PMID 20101697] Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.