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rs397514482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514482(C;T)
Make rs397514482(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position9409079
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514482
ebirs397514482
HLIrs397514482
Exacrs397514482
Varsomers397514482
Maprs397514482
PheGenIrs397514482
hapmaprs397514482
1000 genomesrs397514482
hgdprs397514482
ensemblrs397514482
gopubmedrs397514482
geneviewrs397514482
scholarrs397514482
googlers397514482
pharmgkbrs397514482
gwascentralrs397514482
openSNPrs397514482
23andMers397514482
23andMe allrs397514482
SNP Nexus

SNPshotrs397514482
SNPdbers397514482
MSV3drs397514482
GWAS Ctlgrs397514482
Max Magnitude0
ClinVar
Risk rs397514482(A,T;A,T)
Alt rs397514482(A,T;A,T)
Reference rs397514482(C;C)
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.9389726C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024336.3, RCV000191051.1,