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rs121908152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908152(C;C)
Make rs121908152(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position247425167
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908152
ebirs121908152
HLIrs121908152
Exacrs121908152
Varsomers121908152
Maprs121908152
PheGenIrs121908152
hapmaprs121908152
1000 genomesrs121908152
hgdprs121908152
ensemblrs121908152
gopubmedrs121908152
geneviewrs121908152
scholarrs121908152
googlers121908152
pharmgkbrs121908152
gwascentralrs121908152
openSNPrs121908152
23andMers121908152
23andMe allrs121908152
SNP Nexus

SNPshotrs121908152
SNPdbers121908152
MSV3drs121908152
GWAS Ctlgrs121908152
Max Magnitude0
OMIM606416
Desc
Variant0007
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908152(C;C)
Alt rs121908152(C;C)
Reference rs121908152(T;T)
Significance Pathogenic
Disease Chronic infantile neurological Familial cold urticaria
Variation info
Gene NLRP3
CLNDBN Chronic infantile neurological, cutaneous and articular syndrome Familial cold urticaria
Reversed 0
HGVS NC_000001.10:g.247588469T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004625.2, RCV000084210.1,


[PMID 12032915OA-icon.png] Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.