rs377767385

Orientation

plus

Stabilized

plus

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

Make rs377767385(-;-)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51078420

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs377767385
dbSNP (classic)	rs377767385
ClinGen	rs377767385
ebi	rs377767385
HLI	rs377767385
Exac	rs377767385
Gnomad	rs377767385
Varsome	rs377767385
LitVar	rs377767385
Map	rs377767385
PheGenI	rs377767385
Biobank	rs377767385
1000 genomes	rs377767385
hgdp	rs377767385
ensembl	rs377767385
geneview	rs377767385
scholar	rs377767385
google	rs377767385
pharmgkb	rs377767385
gwascentral	rs377767385
openSNP	rs377767385
23andMe	rs377767385
SNPshot	rs377767385
SNPdbe	rs377767385
MSV3d	rs377767385
GWAS Ctlg	rs377767385

Max Magnitude

4

ClinVar
Risk	rs377767385(-;-)
Alt	rs377767385(-;-)
Reference	Rs377767385(ACGAAGTACTTCAT;ACGAAGTACTTCAT)
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.48604790_48604803delGAAGTACTTCATAC
CLNSRC	ClinVar
CLNACC	RCV000021759.1,

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