rs797045441

Orientation

minus

Stabilized

minus

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

Make rs797045441(-;-)

Make rs797045441(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

120525060

Gene

CDK5RAP2

is a	snp
is	mentioned by
dbSNP	rs797045441
dbSNP (classic)	rs797045441
ClinGen	rs797045441
ebi	rs797045441
HLI	rs797045441
Exac	rs797045441
Gnomad	rs797045441
Varsome	rs797045441
LitVar	rs797045441
Map	rs797045441
PheGenI	rs797045441
Biobank	rs797045441
1000 genomes	rs797045441
hgdp	rs797045441
ensembl	rs797045441
geneview	rs797045441
scholar	rs797045441
google	rs797045441
pharmgkb	rs797045441
gwascentral	rs797045441
openSNP	rs797045441
23andMe	rs797045441
SNPshot	rs797045441
SNPdbe	rs797045441
MSV3d	rs797045441
GWAS Ctlg	rs797045441

Max Magnitude

0

ClinVar
Risk	rs797045441(-;-)
Alt	rs797045441(-;-)
Reference	Rs797045441(G;G)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 3
Variation	info
Gene	CDK5RAP2
CLNDBN	Primary autosomal recessive microcephaly 3
Reversed	1
HGVS	NC_000009.11:g.123287338delC
CLNSRC
CLNACC	RCV000194025.1,