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rs387907179

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907179(A;G)
Make rs387907179(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position9384333
GenePLCB4
is asnp
is mentioned by
dbSNPrs387907179
ebirs387907179
HLIrs387907179
Exacrs387907179
Varsomers387907179
Maprs387907179
PheGenIrs387907179
hapmaprs387907179
1000 genomesrs387907179
hgdprs387907179
ensemblrs387907179
gopubmedrs387907179
geneviewrs387907179
scholarrs387907179
googlers387907179
pharmgkbrs387907179
gwascentralrs387907179
openSNPrs387907179
23andMers387907179
23andMe allrs387907179
SNP Nexus

SNPshotrs387907179
SNPdbers387907179
MSV3drs387907179
GWAS Ctlgrs387907179
Max Magnitude0
ClinVar
Risk rs387907179(C,G;C,G)
Alt rs387907179(C,G;C,G)
Reference rs387907179(A;A)
Significance Pathogenic
Disease Auriculocondylar syndrome 1 Auriculocondylar syndrome 2
Variation info
Gene PLCB4
CLNDBN Auriculocondylar syndrome 1 Auriculocondylar syndrome 2
Reversed 0
HGVS NC_000020.10:g.9364980A>C; NC_000020.10:g.9364980A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000191052.1, RCV000024334.3,