rs3819122

Orientation

minus

Stabilized

minus

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

Make rs3819122(G;G)

Make rs3819122(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

51084461

Gene

SMAD4

is a	snp
is	mentioned by
dbSNP	rs3819122
dbSNP (classic)	rs3819122
ClinGen	rs3819122
ebi	rs3819122
HLI	rs3819122
Exac	rs3819122
Gnomad	rs3819122
Varsome	rs3819122
LitVar	rs3819122
Map	rs3819122
PheGenI	rs3819122
Biobank	rs3819122
1000 genomes	rs3819122
hgdp	rs3819122
ensembl	rs3819122
geneview	rs3819122
scholar	rs3819122
google	rs3819122
pharmgkb	rs3819122
gwascentral	rs3819122
openSNP	rs3819122
23andMe	rs3819122
SNPshot	rs3819122
SNPdbe	rs3819122
MSV3d	rs3819122
GWAS Ctlg	rs3819122

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

[PMID 26920143] Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.

ClinVar
Risk	rs3819122(G;G)
Alt	rs3819122(G;G)
Reference	Rs3819122(T;T)
Significance	Non-pathogenic
Disease	Osler hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile Polyposis
Variation	info
Gene	SMAD4
CLNDBN	Osler hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile Polyposis
Reversed	1
HGVS	NC_000018.9:g.48610831A>C
CLNSRC
CLNACC	RCV000277107.1, RCV000332185.1, RCV000362126.1,