rs724159996

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TAAAG;TAAAG)	0	common in clinvar

Make rs724159996(-;-)

Make rs724159996(-;TAAAG)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

127886669

Gene

PLK4

is a	snp
is	mentioned by
dbSNP	rs724159996
dbSNP (classic)	rs724159996
ClinGen	rs724159996
ebi	rs724159996
HLI	rs724159996
Exac	rs724159996
Gnomad	rs724159996
Varsome	rs724159996
LitVar	rs724159996
Map	rs724159996
PheGenI	rs724159996
Biobank	rs724159996
1000 genomes	rs724159996
hgdp	rs724159996
ensembl	rs724159996
geneview	rs724159996
scholar	rs724159996
google	rs724159996
pharmgkb	rs724159996
gwascentral	rs724159996
openSNP	rs724159996
23andMe	rs724159996
SNPshot	rs724159996
SNPdbe	rs724159996
MSV3d	rs724159996
GWAS Ctlg	rs724159996

Max Magnitude

0

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,