rs377767378

Orientation

plus

Stabilized

plus

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

Make rs377767378(-;-)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51078402

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767378
dbSNP (classic)	rs377767378
ClinGen	rs377767378
ebi	rs377767378
HLI	rs377767378
Exac	rs377767378
Gnomad	rs377767378
Varsome	rs377767378
LitVar	rs377767378
Map	rs377767378
PheGenI	rs377767378
Biobank	rs377767378
1000 genomes	rs377767378
hgdp	rs377767378
ensembl	rs377767378
geneview	rs377767378
scholar	rs377767378
google	rs377767378
pharmgkb	rs377767378
gwascentral	rs377767378
openSNP	rs377767378
23andMe	rs377767378
SNPshot	rs377767378
SNPdbe	rs377767378
MSV3d	rs377767378
GWAS Ctlg	rs377767378

Max Magnitude

4

ClinVar
Risk	rs377767378(-;-)
Alt	rs377767378(-;-)
Reference	Rs377767378(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.48604772delG
CLNSRC	ClinVar
CLNACC	RCV000021751.1,

[PMID 15031030] A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).