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rs397514562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514562(A;A)
Make rs397514562(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position81919549
GenePLCG2
is asnp
is mentioned by
dbSNPrs397514562
ebirs397514562
HLIrs397514562
Exacrs397514562
Varsomers397514562
Maprs397514562
PheGenIrs397514562
hapmaprs397514562
1000 genomesrs397514562
hgdprs397514562
ensemblrs397514562
gopubmedrs397514562
geneviewrs397514562
scholarrs397514562
googlers397514562
pharmgkbrs397514562
gwascentralrs397514562
openSNPrs397514562
23andMers397514562
23andMe allrs397514562
SNP Nexus

SNPshotrs397514562
SNPdbers397514562
MSV3drs397514562
GWAS Ctlgrs397514562
Max Magnitude0
ClinVar
Risk rs397514562(A;A)
Alt rs397514562(A;A)
Reference rs397514562(C;C)
Significance Pathogenic
Disease Autoinflammation
Variation info
Gene PLCG2
CLNDBN Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Reversed 0
HGVS NC_000016.9:g.81953154C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032898.2,