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rs1057524876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057524876(C;G)
Make rs1057524876(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position5521666
GeneNLRP1
is asnp
is mentioned by
dbSNPrs1057524876
dbSNP (old)rs1057524876
ClinGenrs1057524876
ebirs1057524876
HLIrs1057524876
Exacrs1057524876
Gnomadrs1057524876
Varsomers1057524876
Maprs1057524876
PheGenIrs1057524876
Biobankrs1057524876
1000 genomesrs1057524876
hgdprs1057524876
ensemblrs1057524876
gopubmedrs1057524876
geneviewrs1057524876
scholarrs1057524876
googlers1057524876
pharmgkbrs1057524876
gwascentralrs1057524876
openSNPrs1057524876
23andMers1057524876
23andMe allrs1057524876
SNPshotrs1057524876
SNPdbers1057524876
MSV3drs1057524876
GWAS Ctlgrs1057524876
Max Magnitude0
ClinVar
Risk rs1057524876(G;G)
Alt rs1057524876(G;G)
Reference Rs1057524876(C;C)
Significance Pathogenic
Disease Autoinflammation with arthritis and dyskeratosis
Variation info
Gene NLRP1
CLNDBN Autoinflammation with arthritis and dyskeratosis
Reversed 1
HGVS NC_000017.10:g.5424986G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000445359.1,