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rs724159996

From SNPedia

Orientationplus
Geno Mag Summary
(TAAAG;TAAAG) 0 common in clinvar
Make rs724159996(-;-)
Make rs724159996(-;TAAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127886669
GenePLK4
is asnp
is mentioned by
dbSNPrs724159996
ebirs724159996
HLIrs724159996
Exacrs724159996
Varsomers724159996
Maprs724159996
PheGenIrs724159996
hapmaprs724159996
1000 genomesrs724159996
hgdprs724159996
ensemblrs724159996
gopubmedrs724159996
geneviewrs724159996
scholarrs724159996
googlers724159996
pharmgkbrs724159996
gwascentralrs724159996
openSNPrs724159996
23andMers724159996
23andMe allrs724159996
SNP Nexus

SNPshotrs724159996
SNPdbers724159996
MSV3drs724159996
GWAS Ctlgrs724159996
Max Magnitude0
ClinVar
Risk rs724159996(;)
Alt rs724159996(;)
Reference rs724159996(TAAAG;TAAAG)
Significance Pathogenic
Disease Microcephaly and chorioretinopathy
Variation info
Gene PLK4
CLNDBN Microcephaly and chorioretinopathy, autosomal recessive, 2
Reversed 0
HGVS NC_000004.11:g.128807824_128807828delTAAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000149796.7,