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rs8176785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs8176785(A;G)
Make rs8176785(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position20783740
GeneNELL1
is asnp
is mentioned by
dbSNPrs8176785
ebirs8176785
HLIrs8176785
Exacrs8176785
Varsomers8176785
Maprs8176785
PheGenIrs8176785
hapmaprs8176785
1000 genomesrs8176785
hgdprs8176785
ensemblrs8176785
gopubmedrs8176785
geneviewrs8176785
scholarrs8176785
googlers8176785
pharmgkbrs8176785
gwascentralrs8176785
openSNPrs8176785
23andMers8176785
23andMe allrs8176785
SNP Nexus

SNPshotrs8176785
SNPdbers8176785
MSV3drs8176785
GWAS Ctlgrs8176785
GMAF0.3136
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene NELL1
allele A
frequency 0.267
sift TOLERATED
HuRef 1103649626724
Disease Association Expressed in craniofacial anomalies.



[PMID 17684544OA-icon.png] Systematic association mapping identifies NELL1 as a novel IBD disease gene.


GET Evidence
NELL1-R82Q
aa_change Arg82Gln
aa_change_short R82Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.601413
summary



[PMID 22495925] Genetic polymorphisms inside and outside the MHC improve prediction of AS radiographic severity in addition to clinical variables.