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rs1801376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(G;G) 0 common in clinvar
Make rs1801376(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40185630
GeneBUB1B
is asnp
is mentioned by
dbSNPrs1801376
ebirs1801376
HLIrs1801376
Exacrs1801376
Varsomers1801376
Maprs1801376
PheGenIrs1801376
hapmaprs1801376
1000 genomesrs1801376
hgdprs1801376
ensemblrs1801376
gopubmedrs1801376
geneviewrs1801376
scholarrs1801376
googlers1801376
pharmgkbrs1801376
gwascentralrs1801376
openSNPrs1801376
23andMers1801376
23andMe allrs1801376
SNP Nexus

SNPshotrs1801376
SNPdbers1801376
MSV3drs1801376
GWAS Ctlgrs1801376
GMAF0.3774
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene BUB1B
allele A
frequency 0.733
sift TOLERATED
HuRef 1103645592560
Disease Association Defects in BUB1B are associated with tumor formation.



GET Evidence
BUB1B-R349Q
aa_change Arg349Gln
aa_change_short R349Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.736103
summary



ClinVar
Risk rs1801376(A;A)
Alt rs1801376(A;A)
Reference rs1801376(G;G)
Significance Non-pathogenic
Disease Mosaic variegated aneuploidy syndrome not specified
Variation info
Gene BUB1B
CLNDBN Mosaic variegated aneuploidy syndrome not specified
Reversed 0
HGVS NC_000015.9:g.40477831G\x3d; NC_000015.9:g.40477831G>A
CLNSRC
CLNACC RCV000210495.2, RCV000120431.1,