rs387906274

Orientation

minus

Stabilized

minus

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

Make rs387906274(A;G)

Make rs387906274(G;G)

Reference

GRCh38 38.1/141

Chromosome

9

Position

120419975

Gene

CDK5RAP2

is a	snp
is	mentioned by
dbSNP	rs387906274
dbSNP (classic)	rs387906274
ClinGen	rs387906274
ebi	rs387906274
HLI	rs387906274
Exac	rs387906274
Gnomad	rs387906274
Varsome	rs387906274
LitVar	rs387906274
Map	rs387906274
PheGenI	rs387906274
Biobank	rs387906274
1000 genomes	rs387906274
hgdp	rs387906274
ensembl	rs387906274
geneview	rs387906274
scholar	rs387906274
google	rs387906274
pharmgkb	rs387906274
gwascentral	rs387906274
openSNP	rs387906274
23andMe	rs387906274
SNPshot	rs387906274
SNPdbe	rs387906274
MSV3d	rs387906274
GWAS Ctlg	rs387906274

Max Magnitude

0

ClinVar
Risk	rs387906274(G;G)
Alt	rs387906274(G;G)
Reference	Rs387906274(A;A)
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.123182253T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002595.3,