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rs9302752

From SNPedia

Orientationplus
Stabilizedplus
Make rs9302752(C;C)
Make rs9302752(C;T)
Make rs9302752(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position50685192
is asnp
is mentioned by
dbSNPrs9302752
ebirs9302752
HLIrs9302752
Exacrs9302752
Varsomers9302752
Maprs9302752
PheGenIrs9302752
hapmaprs9302752
1000 genomesrs9302752
hgdprs9302752
ensemblrs9302752
gopubmedrs9302752
geneviewrs9302752
scholarrs9302752
googlers9302752
pharmgkbrs9302752
gwascentralrs9302752
openSNPrs9302752
23andMers9302752
23andMe allrs9302752
SNP Nexus

SNPshotrs9302752
SNPdbers9302752
MSV3drs9302752
GWAS Ctlgrs9302752
GMAF0.438
Max Magnitude
? (C;C) (C;T) (T;T) 28
Variant in the NOD2 gene associated with greater susceptibility to leprosy in Asians, according to the 23andMe blog. The risk allele is C, and the odds ratio is 1.59.

Another gene associated with susceptibility to leprosy is TNFSF15. SNPs in both the NOD2 and TNFSF15 genes are also associated with susceptibility to Crohn's disease.

GWAS snp
PMID [PMID 20018961]
Trait Leprosy
Title Genomewide Association Study of Leprosy
Risk Allele G
P-val 4E-40
Odds Ratio 1.59 [1.49-1.71]


[PMID 22212192] Polymorphisms of NOD2 and the risk of tuberculosis: a validation study in the Chinese population


[PMID 22504414] Association between C13ORF31, NOD2, RIPK2 and TLR10 polymorphisms and urothelial bladder cancer.


GET Evidence
rs9302752
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.648438
summary



Leprosy Susceptibility


[PMID 27128681] Genetic Variation in Autophagy-Related Genes Influences the Risk and Phenotype of Buruli Ulcer.