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rs397514480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514480(A;G)
Make rs397514480(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position9409086
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514480
ebirs397514480
HLIrs397514480
Exacrs397514480
Varsomers397514480
Maprs397514480
PheGenIrs397514480
hapmaprs397514480
1000 genomesrs397514480
hgdprs397514480
ensemblrs397514480
gopubmedrs397514480
geneviewrs397514480
scholarrs397514480
googlers397514480
pharmgkbrs397514480
gwascentralrs397514480
openSNPrs397514480
23andMers397514480
23andMe allrs397514480
SNP Nexus

SNPshotrs397514480
SNPdbers397514480
MSV3drs397514480
GWAS Ctlgrs397514480
Max Magnitude0
ClinVar
Risk rs397514480(G;G)
Alt rs397514480(G;G)
Reference rs397514480(A;A)
Significance Pathogenic
Disease Auriculocondylar syndrome 2 Auriculocondylar syndrome 1
Variation info
Gene PLCB4
CLNDBN Auriculocondylar syndrome 2 Auriculocondylar syndrome 1
Reversed 0
HGVS NC_000020.10:g.9389733A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024333.4, RCV000191054.1,