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rs3819122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs3819122(G;G)
Make rs3819122(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position51084461
GeneSMAD4
is asnp
is mentioned by
dbSNPrs3819122
dbSNP (old)rs3819122
ClinGenrs3819122
ebirs3819122
HLIrs3819122
Exacrs3819122
Gnomadrs3819122
Varsomers3819122
Maprs3819122
PheGenIrs3819122
Biobankrs3819122
1000 genomesrs3819122
hgdprs3819122
ensemblrs3819122
gopubmedrs3819122
geneviewrs3819122
scholarrs3819122
googlers3819122
pharmgkbrs3819122
gwascentralrs3819122
openSNPrs3819122
23andMers3819122
23andMe allrs3819122
SNP Nexus

SNPshotrs3819122
SNPdbers3819122
MSV3drs3819122
GWAS Ctlgrs3819122
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 26920143OA-icon.png] 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,