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rs397514481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514481(A;A)
Make rs397514481(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position9409080
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514481
ebirs397514481
HLIrs397514481
Exacrs397514481
Varsomers397514481
Maprs397514481
PheGenIrs397514481
hapmaprs397514481
1000 genomesrs397514481
hgdprs397514481
ensemblrs397514481
gopubmedrs397514481
geneviewrs397514481
scholarrs397514481
googlers397514481
pharmgkbrs397514481
gwascentralrs397514481
openSNPrs397514481
23andMers397514481
23andMe allrs397514481
SNP Nexus

SNPshotrs397514481
SNPdbers397514481
MSV3drs397514481
GWAS Ctlgrs397514481
Max Magnitude0
ClinVar
Risk rs397514481(A,T;A,T)
Alt rs397514481(A,T;A,T)
Reference rs397514481(G;G)
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.9389727G>A; NC_000020.10:g.9389727G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024335.4, RCV000191053.1, RCV000054838.2,