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rs56079734

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs56079734(C;T)
Make rs56079734(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40165136
GeneBUB1B
is asnp
is mentioned by
dbSNPrs56079734
ebirs56079734
HLIrs56079734
Exacrs56079734
Varsomers56079734
Maprs56079734
PheGenIrs56079734
hapmaprs56079734
1000 genomesrs56079734
hgdprs56079734
ensemblrs56079734
gopubmedrs56079734
geneviewrs56079734
scholarrs56079734
googlers56079734
pharmgkbrs56079734
gwascentralrs56079734
openSNPrs56079734
23andMers56079734
23andMe allrs56079734
SNP Nexus

SNPshotrs56079734
SNPdbers56079734
MSV3drs56079734
GWAS Ctlgrs56079734
GMAF0.01791
Max Magnitude0
OMIM602860
Desc
Variant0001
Relatedalso


ClinVar
Risk rs56079734(T;T)
Alt rs56079734(T;T)
Reference rs56079734(C;C)
Significance Pathogenic
Disease Carcinoma of colon not specified
Variation info
Gene BUB1B
CLNDBN Carcinoma of colon not specified
Reversed 0
HGVS NC_000015.9:g.40457337C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007150.4, RCV000120422.1,



GET Evidence
BUB1B-T40M
aa_change Thr40Met
aa_change_short T40M
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0239822
summary This variant was found in colorectal and renal carcinoma cell lines.