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rs104895565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104895565(-;-)
Make rs104895565(-;TT)
Make rs104895565(TT;TT)
ReferenceGRCh38 38.1/142
Chromosome19
Position53809584
GeneNLRP12
is asnp
is mentioned by
dbSNPrs104895565
ebirs104895565
HLIrs104895565
Exacrs104895565
Varsomers104895565
Maprs104895565
PheGenIrs104895565
hapmaprs104895565
1000 genomesrs104895565
hgdprs104895565
ensemblrs104895565
gopubmedrs104895565
geneviewrs104895565
scholarrs104895565
googlers104895565
pharmgkbrs104895565
gwascentralrs104895565
openSNPrs104895565
23andMers104895565
23andMe allrs104895565
SNP Nexus

SNPshotrs104895565
SNPdbers104895565
MSV3drs104895565
GWAS Ctlgrs104895565
Max Magnitude0
ClinVar
Risk rs104895565(TTA,TA;TTA,TA)
Alt rs104895565(TTA,TA;TTA,TA)
Reference rs104895565(A;A)
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.54312839dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001664.3, RCV000084144.1,