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rs587781260

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587781260(C;C)
Make rs587781260(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position32250842
GeneNLRC4
is asnp
is mentioned by
dbSNPrs587781260
ebirs587781260
HLIrs587781260
Exacrs587781260
Varsomers587781260
Maprs587781260
PheGenIrs587781260
hapmaprs587781260
1000 genomesrs587781260
hgdprs587781260
ensemblrs587781260
gopubmedrs587781260
geneviewrs587781260
scholarrs587781260
googlers587781260
pharmgkbrs587781260
gwascentralrs587781260
openSNPrs587781260
23andMers587781260
23andMe allrs587781260
SNP Nexus

SNPshotrs587781260
SNPdbers587781260
MSV3drs587781260
GWAS Ctlgrs587781260
Max Magnitude0
ClinVar
Risk rs587781260(C;C)
Alt rs587781260(C;C)
Reference rs587781260(T;T)
Significance Pathogenic
Disease Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Autoinflammation with infantile enterocolitis
Variation info
Gene NLRC4
CLNDBN Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) Autoinflammation with infantile enterocolitis
Reversed 1
HGVS NC_000002.11:g.32475911A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000132764.1, RCV000144517.2,