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rs12150220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) slightly increased risk for several autoimmune diseases
(A;T) slightly increased risk for several autoimmune diseases
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome17
Position5582047
GeneNLRP1
is asnp
is mentioned by
dbSNPrs12150220
ebirs12150220
HLIrs12150220
Exacrs12150220
Varsomers12150220
Maprs12150220
PheGenIrs12150220
hapmaprs12150220
1000 genomesrs12150220
hgdprs12150220
ensemblrs12150220
gopubmedrs12150220
geneviewrs12150220
scholarrs12150220
googlers12150220
pharmgkbrs12150220
gwascentralrs12150220
openSNPrs12150220
23andMers12150220
23andMe allrs12150220
SNP Nexus

SNPshotrs12150220
SNPdbers12150220
MSV3drs12150220
GWAS Ctlgrs12150220
GMAF0.2314
Max Magnitude
? (A;A) (A;T) (T;T) 28
rs12150220 is a SNP in the NLRP1 gene, which encodes the NACHT leucine-rich-repeat protein 1. SNPs in this gene may be involved in higher risk for several autoimmune diseases.

In a study investigating large patient cohorts from six different autoimmune diseases, including autoimmune Addison's disease (n=333 patients), type-1 diabetes (n=1086), multiple sclerosis (n=502), rheumatoid arthritis (n=945), systemic lupus erythematosus (n=156) and juvenile idiopathic arthritis (n=505), plus 3273 healthy controls, the rs12150220(A) allele was associated with higher risk for both autoimmune Addison's disease (odds ratio 1.25, CI: 1.06-1.49, p = 0.007) and type-1 diabetes (odds ratio 1.15, CI: 1.04-1.27, p = 0.005).[PMID 18946481]

OMIM606636
DescNLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1
Variant
Relatedalso


[PMID 20152874] A coding variant in NLRP1is associated with autoimmune Addison;s disease


[PMID 21245836] The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease

OMIM606636
Desc
Variant0001
Relatedalso


ClinVar
Risk rs12150220(T;T)
Alt rs12150220(T;T)
Reference rs12150220(A;A)
Significance Other
Disease Vitiligo-associated multiple autoimmune disease susceptibility 1
Variation info
Gene NLRP1
CLNDBN Vitiligo-associated multiple autoimmune disease susceptibility 1
Reversed 0
HGVS NC_000017.10:g.5485367A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004380.3,



[PMID 21149496] NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis.


[PMID 21448414OA-icon.png] Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.


[PMID 22235789] Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus.


[PMID 22524199] Inflammasome polymorphisms confer susceptibility to sporadic malignant melanoma.


GET Evidence
NLRP1-L155H
aa_change Leu155His
aa_change_short L155H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.329708
summary



[PMID 23922971OA-icon.png] Genetic associations with diabetes: meta-analyses of 10 candidate polymorphisms


[PMID 23374100] Polymorphisms in NLRP1 gene and susceptibility to autoimmune thyroid disease.


[PMID 23773036] Association of NLRP1 genetic variants and mRNA overexpression with generalized vitiligo and disease activity in a Gujarat population.