rs377767387

Orientation

plus

Stabilized

plus

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

Make rs377767387(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51076777

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767387
dbSNP (classic)	rs377767387
ClinGen	rs377767387
ebi	rs377767387
HLI	rs377767387
Exac	rs377767387
Gnomad	rs377767387
Varsome	rs377767387
LitVar	rs377767387
Map	rs377767387
PheGenI	rs377767387
Biobank	rs377767387
1000 genomes	rs377767387
hgdp	rs377767387
ensembl	rs377767387
geneview	rs377767387
scholar	rs377767387
google	rs377767387
pharmgkb	rs377767387
gwascentral	rs377767387
openSNP	rs377767387
23andMe	rs377767387
SNPshot	rs377767387
SNPdbe	rs377767387
MSV3d	rs377767387
GWAS Ctlg	rs377767387

Max Magnitude

4

ClinVar
Risk	rs377767387(A;A)
Alt	rs377767387(A;A)
Reference	Rs377767387(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.48603147G>A
CLNSRC	ARUP SMAD4
CLNACC	RCV000032042.1,

[PMID 21572342] Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.