rs374351172

Orientation

plus

Stabilized

plus

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

Make rs374351172(A;A)

Make rs374351172(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

120409185

Gene

CDK5RAP2

is a	snp
is	mentioned by
dbSNP	rs374351172
dbSNP (classic)	rs374351172
ClinGen	rs374351172
ebi	rs374351172
HLI	rs374351172
Exac	rs374351172
Gnomad	rs374351172
Varsome	rs374351172
LitVar	rs374351172
Map	rs374351172
PheGenI	rs374351172
Biobank	rs374351172
1000 genomes	rs374351172
hgdp	rs374351172
ensembl	rs374351172
geneview	rs374351172
scholar	rs374351172
google	rs374351172
pharmgkb	rs374351172
gwascentral	rs374351172
openSNP	rs374351172
23andMe	rs374351172
SNPshot	rs374351172
SNPdbe	rs374351172
MSV3d	rs374351172
GWAS Ctlg	rs374351172

Max Magnitude

0

ClinVar
Risk	rs374351172(A;A)
Alt	rs374351172(A;A)
Reference	Rs374351172(C;C)
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.123171463C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000076923.3,