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rs121908154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908154(C;C)
Make rs121908154(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position247424375
GeneNLRP3
is asnp
is mentioned by
dbSNPrs121908154
ebirs121908154
HLIrs121908154
Exacrs121908154
Varsomers121908154
Maprs121908154
PheGenIrs121908154
hapmaprs121908154
1000 genomesrs121908154
hgdprs121908154
ensemblrs121908154
gopubmedrs121908154
geneviewrs121908154
scholarrs121908154
googlers121908154
pharmgkbrs121908154
gwascentralrs121908154
openSNPrs121908154
23andMers121908154
23andMe allrs121908154
SNP Nexus

SNPshotrs121908154
SNPdbers121908154
MSV3drs121908154
GWAS Ctlgrs121908154
Max Magnitude0
OMIM606416
Desc
Variant0009
Relatedalso
OMIM120100
Desc
Variant
Relatedalso
ClinVar
Risk rs121908154(C;C)
Alt rs121908154(C;C)
Reference rs121908154(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.247587677T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004628.2, RCV000084248.1,


[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.