Have questions? Visit https://www.reddit.com/r/SNPedia

rs34833812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs34833812(C;T)
Make rs34833812(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position30672127
GeneTGFBR2
is asnp
is mentioned by
dbSNPrs34833812
ebirs34833812
HLIrs34833812
Exacrs34833812
Varsomers34833812
Maprs34833812
PheGenIrs34833812
hapmaprs34833812
1000 genomesrs34833812
hgdprs34833812
ensemblrs34833812
gopubmedrs34833812
geneviewrs34833812
scholarrs34833812
googlers34833812
pharmgkbrs34833812
gwascentralrs34833812
openSNPrs34833812
23andMers34833812
23andMe allrs34833812
SNP Nexus

SNPshotrs34833812
SNPdbers34833812
MSV3drs34833812
GWAS Ctlgrs34833812
GMAF0.005969
Max Magnitude0
OMIM190182
Desc
Variant0002
Relatedalso


ClinVar
Risk rs34833812(T;T)
Alt rs34833812(T;T)
Reference rs34833812(C;C)
Significance Pathogenic
Disease Hereditary nonpolyposis colorectal cancer type 6
Variation info
Gene TGFBR2
CLNDBN Hereditary nonpolyposis colorectal cancer type 6
Reversed 0
HGVS NC_000003.11:g.30713619C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013325.23,



GET Evidence
TGFBR2-T340M
aa_change Thr340Met
aa_change_short T340M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 9.2954e-05
summary