rs2442513

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common genotype
(C;C)	0	common in clinvar
(T;T)	0

Make rs2442513(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

6439029

Gene

MCPH1

is a	snp
is	mentioned by
dbSNP	rs2442513
dbSNP (classic)	rs2442513
ClinGen	rs2442513
ebi	rs2442513
HLI	rs2442513
Exac	rs2442513
Gnomad	rs2442513
Varsome	rs2442513
LitVar	rs2442513
Map	rs2442513
PheGenI	rs2442513
Biobank	rs2442513
1000 genomes	rs2442513
hgdp	rs2442513
ensembl	rs2442513
geneview	rs2442513
scholar	rs2442513
google	rs2442513
pharmgkb	rs2442513
gwascentral	rs2442513
openSNP	rs2442513
23andMe	rs2442513
SNPshot	rs2442513
SNPdbe	rs2442513
MSV3d	rs2442513
GWAS Ctlg	rs2442513

GMAF

0.07117

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

ClinVar
Risk	Rs2442513(A;A) rs2442513(G;G)
Alt	Rs2442513(A;A) rs2442513(G;G)
Reference	Rs2442513(C;C)
Significance	Non-pathogenic
Disease	not specified
Variation	info
Gene	MCPH1
CLNDBN	not specified
Reversed	1
HGVS	NC_000008.10:g.6296550G\x3d
CLNSRC	ClinVar GeneDx
CLNACC	RCV000194980.2,