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rs2228226

From SNPedia

Orientationplus
Stabilizedplus
Make rs2228226(C;C)
Make rs2228226(C;G)
Make rs2228226(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position57472038
GeneARHGAP9, GLI1
is asnp
is mentioned by
dbSNPrs2228226
ebirs2228226
HLIrs2228226
Exacrs2228226
Varsomers2228226
Maprs2228226
PheGenIrs2228226
hapmaprs2228226
1000 genomesrs2228226
hgdprs2228226
ensemblrs2228226
gopubmedrs2228226
geneviewrs2228226
scholarrs2228226
googlers2228226
pharmgkbrs2228226
gwascentralrs2228226
openSNPrs2228226
23andMers2228226
23andMe allrs2228226
SNP Nexus

SNPshotrs2228226
SNPdbers2228226
MSV3drs2228226
GWAS Ctlgrs2228226
GMAF0.4036
Max Magnitude
? (C;C) (C;G) (G;G) 28

[PMID 20445566] Evidence that glioma-associated oncogene homolog 1 is not a universal risk gene for inflammatory bowel disease in Caucasians


[PMID 18817904OA-icon.png] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.


[PMID 19071955OA-icon.png] Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathways.


GET Evidence
GLI1-E1059Q
aa_change Glu1059Gln
aa_change_short E1059Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 24470513] A functional germline variant in GLI1 implicates Hedgehog signaling in clinical outcome of stage II and III colon carcinoma patients