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rs397514483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514483(A;C)
Make rs397514483(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position9409166
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514483
ebirs397514483
HLIrs397514483
Exacrs397514483
Varsomers397514483
Maprs397514483
PheGenIrs397514483
hapmaprs397514483
1000 genomesrs397514483
hgdprs397514483
ensemblrs397514483
gopubmedrs397514483
geneviewrs397514483
scholarrs397514483
googlers397514483
pharmgkbrs397514483
gwascentralrs397514483
openSNPrs397514483
23andMers397514483
23andMe allrs397514483
SNP Nexus

SNPshotrs397514483
SNPdbers397514483
MSV3drs397514483
GWAS Ctlgrs397514483
Max Magnitude0
ClinVar
Risk rs397514483(C;C)
Alt rs397514483(C;C)
Reference rs397514483(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.9389813A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024337.3, RCV000191055.1,