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rs869312781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGCCCCATC;CCGCCCCATC) 0 common in clinvar
Make rs869312781(-;-)
Make rs869312781(-;CCCCATCCCG)
Make rs869312781(CCCCATCCCG;CCCCATCCCG)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position51058438
GeneSMAD4
is asnp
is mentioned by
dbSNPrs869312781
dbSNP (old)rs869312781
ClinGenrs869312781
ebirs869312781
HLIrs869312781
Exacrs869312781
Gnomadrs869312781
Varsomers869312781
Maprs869312781
PheGenIrs869312781
Biobankrs869312781
1000 genomesrs869312781
hgdprs869312781
ensemblrs869312781
gopubmedrs869312781
geneviewrs869312781
scholarrs869312781
googlers869312781
pharmgkbrs869312781
gwascentralrs869312781
openSNPrs869312781
23andMers869312781
23andMe allrs869312781
SNP Nexus

SNPshotrs869312781
SNPdbers869312781
MSV3drs869312781
GWAS Ctlgrs869312781
Max Magnitude0
ClinVar
Risk rs869312781(-;-)
Alt rs869312781(-;-)
Reference Rs869312781(CCGCCCCATC;CCGCCCCATC)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48584808_48584817delCCCCATCCCG
CLNSRC
CLNACC RCV000210091.1,