rs2412541

Orientation

plus

Stabilized

plus

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

Make rs2412541(G;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40621642

Gene	CASC5, KNL1

is a	snp
is	mentioned by
dbSNP	rs2412541
dbSNP (classic)	rs2412541
ClinGen	rs2412541
ebi	rs2412541
HLI	rs2412541
Exac	rs2412541
Gnomad	rs2412541
Varsome	rs2412541
LitVar	rs2412541
Map	rs2412541
PheGenI	rs2412541
Biobank	rs2412541
1000 genomes	rs2412541
hgdp	rs2412541
ensembl	rs2412541
geneview	rs2412541
scholar	rs2412541
google	rs2412541
pharmgkb	rs2412541
gwascentral	rs2412541
openSNP	rs2412541
23andMe	rs2412541
SNPshot	rs2412541
SNPdbe	rs2412541
MSV3d	rs2412541
GWAS Ctlg	rs2412541

GMAF

0.3416

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	Rs2412541(T;T)
Alt	Rs2412541(T;T)
Reference	Rs2412541(G;G)
Significance	Non-pathogenic
Disease	not specified Primary Microcephaly
Variation	info
Gene	KNL1
CLNDBN	not specified Primary Microcephaly, Recessive
Reversed	0
HGVS	NC_000015.9:g.40913840G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000116560.1, RCV000280144.1,