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rs104895564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104895564(C;T)
Make rs104895564(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position53810809
GeneNLRP12
is asnp
is mentioned by
dbSNPrs104895564
ebirs104895564
HLIrs104895564
Exacrs104895564
Varsomers104895564
Maprs104895564
PheGenIrs104895564
hapmaprs104895564
1000 genomesrs104895564
hgdprs104895564
ensemblrs104895564
gopubmedrs104895564
geneviewrs104895564
scholarrs104895564
googlers104895564
pharmgkbrs104895564
gwascentralrs104895564
openSNPrs104895564
23andMers104895564
23andMe allrs104895564
SNP Nexus

SNPshotrs104895564
SNPdbers104895564
MSV3drs104895564
GWAS Ctlgrs104895564
GMAF0.005969
Max Magnitude0
OMIM609648
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104895564(T;T)
Alt rs104895564(T;T)
Reference rs104895564(C;C)
Significance Pathogenic
Disease Familial cold autoinflammatory syndrome 2 not provided
Variation info
Gene NLRP12
CLNDBN Familial cold autoinflammatory syndrome 2 not provided
Reversed 1
HGVS NC_000019.9:g.54314063G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001663.2, RCV000084149.1,


[PMID 18230725OA-icon.png] Mutations in NALP12 cause hereditary periodic fever syndromes.