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rs8081536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs8081536(C;T)
Make rs8081536(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position65538333
GeneAXIN2
is asnp
is mentioned by
dbSNPrs8081536
ebirs8081536
HLIrs8081536
Exacrs8081536
Varsomers8081536
Maprs8081536
PheGenIrs8081536
hapmaprs8081536
1000 genomesrs8081536
hgdprs8081536
ensemblrs8081536
gopubmedrs8081536
geneviewrs8081536
scholarrs8081536
googlers8081536
pharmgkbrs8081536
gwascentralrs8081536
openSNPrs8081536
23andMers8081536
23andMe allrs8081536
SNP Nexus

SNPshotrs8081536
SNPdbers8081536
MSV3drs8081536
GWAS Ctlgrs8081536
GMAF0.002755
Max Magnitude0
? (C;C) (C;T) (T;T) 28

[PMID 19065536] [Association of single nucleotide polymorphisms of Axis inhibitor-2 gene rs224030, rs8081536, rs9913621 with Hirschsprung disease]


GET Evidence
AXIN2-R357H
aa_change Arg357His
aa_change_short R357H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00158022
summary



ClinVar
Risk rs8081536(T;T)
Alt rs8081536(T;T)
Reference rs8081536(C;C)
Significance Non-pathogenic
Disease not specified Oligodontia-colorectal cancer syndrome
Variation info
Gene AXIN2
CLNDBN not specified Oligodontia-colorectal cancer syndrome
Reversed 0
HGVS NC_000017.10:g.63534451C>T
CLNSRC
CLNACC RCV000159770.3, RCV000232023.1,