rs398122971

Orientation

minus

Stabilized

minus

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

Make rs398122971(G;T)

Make rs398122971(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

120530103

Gene

CDK5RAP2

is a	snp
is	mentioned by
dbSNP	rs398122971
dbSNP (classic)	rs398122971
ClinGen	rs398122971
ebi	rs398122971
HLI	rs398122971
Exac	rs398122971
Gnomad	rs398122971
Varsome	rs398122971
LitVar	rs398122971
Map	rs398122971
PheGenI	rs398122971
Biobank	rs398122971
1000 genomes	rs398122971
hgdp	rs398122971
ensembl	rs398122971
geneview	rs398122971
scholar	rs398122971
google	rs398122971
pharmgkb	rs398122971
gwascentral	rs398122971
openSNP	rs398122971
23andMe	rs398122971
SNPshot	rs398122971
SNPdbe	rs398122971
MSV3d	rs398122971
GWAS Ctlg	rs398122971

Max Magnitude

0

ClinVar
Risk	rs398122971(T;T)
Alt	rs398122971(T;T)
Reference	Rs398122971(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.123292381C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000076922.4,