rs863224854

Orientation

minus

Stabilized

minus

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

Make rs863224854(A;G)

Make rs863224854(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

41531211

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs863224854
dbSNP (classic)	rs863224854
ClinGen	rs863224854
ebi	rs863224854
HLI	rs863224854
Exac	rs863224854
Gnomad	rs863224854
Varsome	rs863224854
LitVar	rs863224854
Map	rs863224854
PheGenI	rs863224854
Biobank	rs863224854
1000 genomes	rs863224854
hgdp	rs863224854
ensembl	rs863224854
geneview	rs863224854
scholar	rs863224854
google	rs863224854
pharmgkb	rs863224854
gwascentral	rs863224854
openSNP	rs863224854
23andMe	rs863224854
SNPshot	rs863224854
SNPdbe	rs863224854
MSV3d	rs863224854
GWAS Ctlg	rs863224854

Max Magnitude

0

ClinVar
Risk	rs863224854(G;G)
Alt	rs863224854(G;G)
Reference	Rs863224854(A;A)
Significance	Pathogenic
Disease	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Variation	info
Gene	CASK
CLNDBN	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Reversed	1
HGVS	NC_000023.10:g.41390464T>C
CLNSRC
CLNACC	RCV000198342.1,