rs587783392

Orientation

minus

Stabilized

minus

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

Make rs587783392(C;T)

Make rs587783392(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

120402886

Gene

CDK5RAP2

is a	snp
is	mentioned by
dbSNP	rs587783392
dbSNP (classic)	rs587783392
ClinGen	rs587783392
ebi	rs587783392
HLI	rs587783392
Exac	rs587783392
Gnomad	rs587783392
Varsome	rs587783392
LitVar	rs587783392
Map	rs587783392
PheGenI	rs587783392
Biobank	rs587783392
1000 genomes	rs587783392
hgdp	rs587783392
ensembl	rs587783392
geneview	rs587783392
scholar	rs587783392
google	rs587783392
pharmgkb	rs587783392
gwascentral	rs587783392
openSNP	rs587783392
23andMe	rs587783392
SNPshot	rs587783392
SNPdbe	rs587783392
MSV3d	rs587783392
GWAS Ctlg	rs587783392

Max Magnitude

0

ClinVar
Risk	rs587783392(T;T)
Alt	rs587783392(T;T)
Reference	Rs587783392(C;C)
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.123165164G>A
CLNSRC
CLNACC	RCV000145493.1,