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rs397514770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514770(A;A)
Make rs397514770(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position9387476
GenePLCB4
is asnp
is mentioned by
dbSNPrs397514770
ebirs397514770
HLIrs397514770
Exacrs397514770
Varsomers397514770
Maprs397514770
PheGenIrs397514770
hapmaprs397514770
1000 genomesrs397514770
hgdprs397514770
ensemblrs397514770
gopubmedrs397514770
geneviewrs397514770
scholarrs397514770
googlers397514770
pharmgkbrs397514770
gwascentralrs397514770
openSNPrs397514770
23andMers397514770
23andMe allrs397514770
SNP Nexus

SNPshotrs397514770
SNPdbers397514770
MSV3drs397514770
GWAS Ctlgrs397514770
Max Magnitude0
ClinVar
Risk rs397514770(A;A)
Alt rs397514770(A;A)
Reference rs397514770(G;G)
Significance Pathogenic
Disease Auriculocondylar syndrome 2
Variation info
Gene PLCB4
CLNDBN Auriculocondylar syndrome 2
Reversed 0
HGVS NC_000020.10:g.9368123G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054840.5,