rs377767355

Orientation

plus

Stabilized

plus

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

Make rs377767355(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51067027

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767355
dbSNP (classic)	rs377767355
ClinGen	rs377767355
ebi	rs377767355
HLI	rs377767355
Exac	rs377767355
Gnomad	rs377767355
Varsome	rs377767355
LitVar	rs377767355
Map	rs377767355
PheGenI	rs377767355
Biobank	rs377767355
1000 genomes	rs377767355
hgdp	rs377767355
ensembl	rs377767355
geneview	rs377767355
scholar	rs377767355
google	rs377767355
pharmgkb	rs377767355
gwascentral	rs377767355
openSNP	rs377767355
23andMe	rs377767355
SNPshot	rs377767355
SNPdbe	rs377767355
MSV3d	rs377767355
GWAS Ctlg	rs377767355

Max Magnitude

4

ClinVar
Risk	rs377767355(A;A)
Alt	rs377767355(A;A)
Reference	Rs377767355(T;T)
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.48593397T>A
CLNSRC	ARUP SMAD4
CLNACC	RCV000021721.1,

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