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rs121912580

From SNPedia

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


Make rs121912580(A;A)
ReferenceGRCh38 38.1/141
Chromosome18
Position51067036
GeneSMAD4
is asnp
is mentioned by
dbSNPrs121912580
ebirs121912580
HLIrs121912580
Exacrs121912580
Varsomers121912580
Maprs121912580
PheGenIrs121912580
hapmaprs121912580
1000 genomesrs121912580
hgdprs121912580
ensemblrs121912580
gopubmedrs121912580
geneviewrs121912580
scholarrs121912580
googlers121912580
pharmgkbrs121912580
gwascentralrs121912580
openSNPrs121912580
23andMers121912580
23andMe allrs121912580
SNP Nexus

SNPshotrs121912580
SNPdbers121912580
MSV3drs121912580
GWAS Ctlgrs121912580
Merged fromRs28936393
Max Magnitude4
OMIM600993
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912580(A;A)
Alt rs121912580(A;A)
Reference rs121912580(G;G)
Significance Pathogenic
Disease Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT
Variation info
Gene SMAD4
CLNDBN Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome JP and JP/HHT
Reversed 0
HGVS NC_000018.9:g.48593406G>A
CLNSRC ARUP SMAD4 OMIM Allelic Variant
CLNACC RCV000009074.2, RCV000021722.1,