rs377767349

Orientation

plus

Stabilized

plus

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

Make rs377767349(-;-)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065555

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767349
dbSNP (classic)	rs377767349
ClinGen	rs377767349
ebi	rs377767349
HLI	rs377767349
Exac	rs377767349
Gnomad	rs377767349
Varsome	rs377767349
LitVar	rs377767349
Map	rs377767349
PheGenI	rs377767349
Biobank	rs377767349
1000 genomes	rs377767349
hgdp	rs377767349
ensembl	rs377767349
geneview	rs377767349
scholar	rs377767349
google	rs377767349
pharmgkb	rs377767349
gwascentral	rs377767349
openSNP	rs377767349
23andMe	rs377767349
SNPshot	rs377767349
SNPdbe	rs377767349
MSV3d	rs377767349
GWAS Ctlg	rs377767349

Max Magnitude

4

ClinVar
Risk	rs377767349(-;-)
Alt	rs377767349(-;-)
Reference	Rs377767349(TTG;TTG)
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.48591925_48591927delGTT
CLNSRC	ClinVar
CLNACC	RCV000021715.1,

[PMID 16436638] Mutation screening in juvenile polyposis syndrome.