rs121912580

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4
(G;G)	0	common in clinvar

Make rs121912580(A;A)

Reference

GRCh38 38.1/141

Chromosome

18

Position

51067036

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs121912580
dbSNP (classic)	rs121912580
ClinGen	rs121912580
ebi	rs121912580
HLI	rs121912580
Exac	rs121912580
Gnomad	rs121912580
Varsome	rs121912580
LitVar	rs121912580
Map	rs121912580
PheGenI	rs121912580
Biobank	rs121912580
1000 genomes	rs121912580
hgdp	rs121912580
ensembl	rs121912580
geneview	rs121912580
scholar	rs121912580
google	rs121912580
pharmgkb	rs121912580
gwascentral	rs121912580
openSNP	rs121912580
23andMe	rs121912580
SNPshot	rs121912580
SNPdbe	rs121912580
MSV3d	rs121912580
GWAS Ctlg	rs121912580

Merged from

Rs28936393

Max Magnitude

4

OMIM	600993
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912580(A;A) rs121912580(C;C) rs121912580(T;T)
Alt	rs121912580(A;A) rs121912580(C;C) rs121912580(T;T)
Reference	Rs121912580(G;G)
Significance	Pathogenic
Disease	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT Colorectal Neoplasms Pancreatic adenocarcinoma Adenocarcinoma of lung Oesophageal carcinoma Adenocarcinoma of prostate Adenocarcinoma of stomach
Variation	info
Gene	SMAD4
CLNDBN	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT Colorectal Neoplasms Pancreatic adenocarcinoma Adenocarcinoma of lung Oesophageal carcinoma Adenocarcinoma of prostate Adenocarcinoma of stomach
Reversed	0
HGVS	NC_000018.9:g.48593406G>A; NC_000018.9:g.48593406G>C; NC_000018.9:g.48593406G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009074.2, RCV000021722.1, RCV000422272.1, RCV000425012.1, RCV000431620.1, RCV000435285.1, RCV000443856.1, RCV000444854.1, RCV000418499.1, RCV000426807.1, RCV000427832.1, RCV000434611.1, RCV000437033.1, RCV000444422.1, RCV000420512.1, RCV000427058.1, RCV000430022.1, RCV000436766.1, RCV000438138.1, RCV000443924.1,