rs377767383

Orientation

plus

Stabilized

plus

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

Make rs377767383(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51078408

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767383
dbSNP (classic)	rs377767383
ClinGen	rs377767383
ebi	rs377767383
HLI	rs377767383
Exac	rs377767383
Gnomad	rs377767383
Varsome	rs377767383
LitVar	rs377767383
Map	rs377767383
PheGenI	rs377767383
Biobank	rs377767383
1000 genomes	rs377767383
hgdp	rs377767383
ensembl	rs377767383
geneview	rs377767383
scholar	rs377767383
google	rs377767383
pharmgkb	rs377767383
gwascentral	rs377767383
openSNP	rs377767383
23andMe	rs377767383
SNPshot	rs377767383
SNPdbe	rs377767383
MSV3d	rs377767383
GWAS Ctlg	rs377767383

Max Magnitude

4

ClinVar
Risk	rs377767383(T;T)
Alt	rs377767383(T;T)
Reference	Rs377767383(C;C)
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.48604778C>T
CLNSRC	ARUP SMAD4
CLNACC	RCV000021756.1,

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