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rs151344629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151344629(C;T)
Make rs151344629(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position247424492
GeneNLRP3
is asnp
is mentioned by
dbSNPrs151344629
dbSNP (classic)rs151344629
ClinGenrs151344629
ebirs151344629
HLIrs151344629
Exacrs151344629
Gnomadrs151344629
Varsomers151344629
LitVarrs151344629
Maprs151344629
PheGenIrs151344629
Biobankrs151344629
1000 genomesrs151344629
hgdprs151344629
ensemblrs151344629
geneviewrs151344629
scholarrs151344629
googlers151344629
pharmgkbrs151344629
gwascentralrs151344629
openSNPrs151344629
23andMers151344629
SNPshotrs151344629
SNPdbers151344629
MSV3drs151344629
GWAS Ctlgrs151344629
Max Magnitude0
ClinVar
Risk rs151344629(T;T)
Alt rs151344629(T;T)
Reference Rs151344629(C;C)
Significance Pathogenic
Disease Familial cold urticaria not provided Familial amyloid nephropathy with urticaria AND deafness
Variation info
Gene NLRP3
CLNDBN Familial cold urticaria not provided Familial amyloid nephropathy with urticaria AND deafness
Reversed 0
HGVS NC_000001.10:g.247587794C>T
CLNSRC
CLNACC RCV000084167.1, RCV000214584.2, RCV000449533.1,