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rs9913621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs9913621(C;T)
Make rs9913621(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position65537421
GeneAXIN2
is asnp
is mentioned by
dbSNPrs9913621
ebirs9913621
HLIrs9913621
Exacrs9913621
Varsomers9913621
Maprs9913621
PheGenIrs9913621
hapmaprs9913621
1000 genomesrs9913621
hgdprs9913621
ensemblrs9913621
gopubmedrs9913621
geneviewrs9913621
scholarrs9913621
googlers9913621
pharmgkbrs9913621
gwascentralrs9913621
openSNPrs9913621
23andMers9913621
23andMe allrs9913621
SNP Nexus

SNPshotrs9913621
SNPdbers9913621
MSV3drs9913621
GWAS Ctlgrs9913621
GMAF0.0124
Max Magnitude0

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


GET Evidence
AXIN2-V539M
aa_change Val539Met
aa_change_short V539M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0131995
summary



ClinVar
Risk rs9913621(T;T)
Alt rs9913621(T;T)
Reference rs9913621(C;C)
Significance Non-pathogenic
Disease Hereditary cancer-predisposing syndrome not specified Oligodontia-colorectal cancer syndrome
Variation info
Gene AXIN2
CLNDBN Hereditary cancer-predisposing syndrome not specified Oligodontia-colorectal cancer syndrome
Reversed 0
HGVS NC_000017.10:g.63533539C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000123801.4, RCV000212101.1, RCV000232669.1,