rs754282058

Orientation

plus

Stabilized

plus

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

Make rs754282058(A;A)

Make rs754282058(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

120415130

Gene

CDK5RAP2

is a	snp
is	mentioned by
dbSNP	rs754282058
dbSNP (classic)	rs754282058
ClinGen	rs754282058
ebi	rs754282058
HLI	rs754282058
Exac	rs754282058
Gnomad	rs754282058
Varsome	rs754282058
LitVar	rs754282058
Map	rs754282058
PheGenI	rs754282058
Biobank	rs754282058
1000 genomes	rs754282058
hgdp	rs754282058
ensembl	rs754282058
geneview	rs754282058
scholar	rs754282058
google	rs754282058
pharmgkb	rs754282058
gwascentral	rs754282058
openSNP	rs754282058
23andMe	rs754282058
SNPshot	rs754282058
SNPdbe	rs754282058
MSV3d	rs754282058
GWAS Ctlg	rs754282058

Max Magnitude

0

ClinVar
Risk	rs754282058(A;A) rs754282058(C;C)
Alt	rs754282058(A;A) rs754282058(C;C)
Reference	Rs754282058(G;G)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 3
Variation	info
Gene	CDK5RAP2
CLNDBN	Primary autosomal recessive microcephaly 3
Reversed	0
HGVS	NC_000009.11:g.123177408G>A
CLNSRC
CLNACC	RCV000194268.1,