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rs397514771

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514771(A;T)
Make rs397514771(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position9387477
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514771
ebirs397514771
HLIrs397514771
Exacrs397514771
Varsomers397514771
Maprs397514771
PheGenIrs397514771
hapmaprs397514771
1000 genomesrs397514771
hgdprs397514771
ensemblrs397514771
gopubmedrs397514771
geneviewrs397514771
scholarrs397514771
googlers397514771
pharmgkbrs397514771
gwascentralrs397514771
openSNPrs397514771
23andMers397514771
23andMe allrs397514771
SNP Nexus

SNPshotrs397514771
SNPdbers397514771
MSV3drs397514771
GWAS Ctlgrs397514771
Max Magnitude0
ClinVar
Risk rs397514771(T;T)
Alt rs397514771(T;T)
Reference rs397514771(A;A)
Significance Pathogenic
Disease Auriculocondylar syndrome 2
Variation info
Gene PLCB4
CLNDBN Auriculocondylar syndrome 2
Reversed 0
HGVS NC_000020.10:g.9368124A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054841.2,