rs80338965

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;ACAG)	4
(-;CAGA)	5.1	Juvenile polyposis syndrome
(ACAG;ACAG)	0	common in clinvar
(AGAC;AGAC)	0	common in clinvar

Make rs80338965(-;-)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51067123

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs80338965
dbSNP (classic)	rs80338965
ClinGen	rs80338965
ebi	rs80338965
HLI	rs80338965
Exac	rs80338965
Gnomad	rs80338965
Varsome	rs80338965
LitVar	rs80338965
Map	rs80338965
PheGenI	rs80338965
Biobank	rs80338965
1000 genomes	rs80338965
hgdp	rs80338965
ensembl	rs80338965
geneview	rs80338965
scholar	rs80338965
google	rs80338965
pharmgkb	rs80338965
gwascentral	rs80338965
openSNP	rs80338965
23andMe	rs80338965
SNPshot	rs80338965
SNPdbe	rs80338965
MSV3d	rs80338965
GWAS Ctlg	rs80338965

Merged from

Rs587782338

Max Magnitude

5.1

ClinVar
Risk	rs80338965(-;-) rs80338965(CAGA;CAGA)
Alt	rs80338965(-;-) rs80338965(CAGA;CAGA)
Reference	Rs80338965(ACAG;ACAG)
Significance	Pathogenic
Disease	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not provided
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not provided
Reversed	0
HGVS	NC_000018.9:g.48593494_48593497delCAGA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021727.1, RCV000131266.4, RCV000205495.2, RCV000254690.2,

[PMID 15235019] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.