rs377767323

Orientation

plus

Stabilized

plus

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

Make rs377767323(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51048738

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767323
dbSNP (classic)	rs377767323
ClinGen	rs377767323
ebi	rs377767323
HLI	rs377767323
Exac	rs377767323
Gnomad	rs377767323
Varsome	rs377767323
LitVar	rs377767323
Map	rs377767323
PheGenI	rs377767323
Biobank	rs377767323
1000 genomes	rs377767323
hgdp	rs377767323
ensembl	rs377767323
geneview	rs377767323
scholar	rs377767323
google	rs377767323
pharmgkb	rs377767323
gwascentral	rs377767323
openSNP	rs377767323
23andMe	rs377767323
SNPshot	rs377767323
SNPdbe	rs377767323
MSV3d	rs377767323
GWAS Ctlg	rs377767323

Max Magnitude

4

ClinVar
Risk	rs377767323(A;A)
Alt	rs377767323(A;A)
Reference	Rs377767323(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.48575108G>A
CLNSRC	ARUP SMAD4
CLNACC	RCV000021678.1,

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