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rs724159995

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159995(C;G)
Make rs724159995(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127898434
GenePLK4
is asnp
is mentioned by
dbSNPrs724159995
ebirs724159995
HLIrs724159995
Exacrs724159995
Varsomers724159995
Maprs724159995
PheGenIrs724159995
hapmaprs724159995
1000 genomesrs724159995
hgdprs724159995
ensemblrs724159995
gopubmedrs724159995
geneviewrs724159995
scholarrs724159995
googlers724159995
pharmgkbrs724159995
gwascentralrs724159995
openSNPrs724159995
23andMers724159995
23andMe allrs724159995
SNP Nexus

SNPshotrs724159995
SNPdbers724159995
MSV3drs724159995
GWAS Ctlgrs724159995
Max Magnitude0
ClinVar
Risk rs724159995(G;G)
Alt rs724159995(G;G)
Reference rs724159995(C;C)
Significance Pathogenic
Disease Microcephaly and chorioretinopathy
Variation info
Gene PLK4
CLNDBN Microcephaly and chorioretinopathy, autosomal recessive, 2
Reversed 0
HGVS NC_000004.11:g.128819589C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000149795.4,