rs80338963

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5.1	Juvenile polyposis syndrome
(C;T)	5.1

Make rs80338963(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51065548

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs80338963
dbSNP (classic)	rs80338963
ClinGen	rs80338963
ebi	rs80338963
HLI	rs80338963
Exac	rs80338963
Gnomad	rs80338963
Varsome	rs80338963
LitVar	rs80338963
Map	rs80338963
PheGenI	rs80338963
Biobank	rs80338963
1000 genomes	rs80338963
hgdp	rs80338963
ensembl	rs80338963
geneview	rs80338963
scholar	rs80338963
google	rs80338963
pharmgkb	rs80338963
gwascentral	rs80338963
openSNP	rs80338963
23andMe	rs80338963
SNPshot	rs80338963
SNPdbe	rs80338963
MSV3d	rs80338963
GWAS Ctlg	rs80338963

Max Magnitude

5.1

OMIM	600993
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80338963(A;A) rs80338963(G;G) rs80338963(T;T)
Alt	rs80338963(A;A) rs80338963(G;G) rs80338963(T;T)
Reference	Rs80338963(C;C)
Significance	Pathogenic
Disease	Juvenile polyposis syndrome Colorectal Neoplasms JP and JP/HHT Neoplasm of breast Adenocarcinoma of stomach Uterine cervical neoplasms Adenocarcinoma of lung Oesophageal carcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP not provided
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis syndrome Colorectal Neoplasms JP and JP/HHT Neoplasm of breast Adenocarcinoma of stomach Uterine cervical neoplasms Adenocarcinoma of lung Oesophageal carcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP, JP/HHT, and HHT not provided
Reversed	0
HGVS	NC_000018.9:g.48591918C>A; NC_000018.9:g.48591918C>G; NC_000018.9:g.48591918C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000021702.1, RCV000443865.1, RCV000021710.1, RCV000418132.1, RCV000418748.1, RCV000425278.1, RCV000428136.1, RCV000428393.1, RCV000436432.1, RCV000438396.1, RCV000441273.1, RCV000009071.2, RCV000009072.2, RCV000021711.1, RCV000059732.1, RCV000419013.1, RCV000419899.1, RCV000424666.1, RCV000429075.1, RCV000430148.1, RCV000434956.1, RCV000435832.1, RCV000440366.1,

[PMID 8898652] Somatic alterations of the DPC4 gene in human colorectal cancers in vivo.

[PMID 9285566] Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas.

[PMID 9582123] Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

[PMID 9811934] Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. [PMID 15235019] The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

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