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rs397514769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514769(A;T)
Make rs397514769(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position9387471
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514769
ebirs397514769
HLIrs397514769
Exacrs397514769
Varsomers397514769
Maprs397514769
PheGenIrs397514769
hapmaprs397514769
1000 genomesrs397514769
hgdprs397514769
ensemblrs397514769
gopubmedrs397514769
geneviewrs397514769
scholarrs397514769
googlers397514769
pharmgkbrs397514769
gwascentralrs397514769
openSNPrs397514769
23andMers397514769
23andMe allrs397514769
SNP Nexus

SNPshotrs397514769
SNPdbers397514769
MSV3drs397514769
GWAS Ctlgrs397514769
Max Magnitude0
ClinVar
Risk rs397514769(T;T)
Alt rs397514769(T;T)
Reference rs397514769(A;A)
Significance Pathogenic
Disease Auriculocondylar syndrome 2
Variation info
Gene PLCB4
CLNDBN Auriculocondylar syndrome 2
Reversed 0
HGVS NC_000020.10:g.9368118A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054839.2,