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rs1057518687

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518687(C;T)
Make rs1057518687(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position32251352
GeneNLRC4
is asnp
is mentioned by
dbSNPrs1057518687
dbSNP (classic)rs1057518687
ClinGenrs1057518687
ebirs1057518687
HLIrs1057518687
Exacrs1057518687
Gnomadrs1057518687
Varsomers1057518687
LitVarrs1057518687
Maprs1057518687
PheGenIrs1057518687
Biobankrs1057518687
1000 genomesrs1057518687
hgdprs1057518687
ensemblrs1057518687
geneviewrs1057518687
scholarrs1057518687
googlers1057518687
pharmgkbrs1057518687
gwascentralrs1057518687
openSNPrs1057518687
23andMers1057518687
SNPshotrs1057518687
SNPdbers1057518687
MSV3drs1057518687
GWAS Ctlgrs1057518687
Max Magnitude0
ClinVar
Risk rs1057518687(T;T)
Alt rs1057518687(T;T)
Reference Rs1057518687(C;C)
Significance Probable-Pathogenic
Disease Autoinflammation with infantile enterocolitis
Variation info
Gene NLRC4
CLNDBN Autoinflammation with infantile enterocolitis
Reversed 1
HGVS NC_000002.11:g.32476421G>A
CLNSRC
CLNACC RCV000414888.1,