rs8040502

Orientation

plus

Stabilized

plus

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

Make rs8040502(A;G)

Make rs8040502(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40622992

Gene	CASC5, KNL1

is a	snp
is	mentioned by
dbSNP	rs8040502
dbSNP (classic)	rs8040502
ClinGen	rs8040502
ebi	rs8040502
HLI	rs8040502
Exac	rs8040502
Gnomad	rs8040502
Varsome	rs8040502
LitVar	rs8040502
Map	rs8040502
PheGenI	rs8040502
Biobank	rs8040502
1000 genomes	rs8040502
hgdp	rs8040502
ensembl	rs8040502
geneview	rs8040502
scholar	rs8040502
google	rs8040502
pharmgkb	rs8040502
gwascentral	rs8040502
openSNP	rs8040502
23andMe	rs8040502
SNPshot	rs8040502
SNPdbe	rs8040502
MSV3d	rs8040502
GWAS Ctlg	rs8040502

GMAF

0.2994

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs8040502(G;G)
Alt	rs8040502(G;G)
Reference	Rs8040502(A;A)
Significance	Non-pathogenic
Disease	Primary Microcephaly
Variation	info
Gene	KNL1
CLNDBN	Primary Microcephaly, Recessive
Reversed	0
HGVS	NC_000015.9:g.40915190A>G
CLNSRC
CLNACC	RCV000320581.1,