rs587783364

Orientation

minus

Stabilized

minus

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

Make rs587783364(C;T)

Make rs587783364(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

41531042

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs587783364
dbSNP (classic)	rs587783364
ClinGen	rs587783364
ebi	rs587783364
HLI	rs587783364
Exac	rs587783364
Gnomad	rs587783364
Varsome	rs587783364
LitVar	rs587783364
Map	rs587783364
PheGenI	rs587783364
Biobank	rs587783364
1000 genomes	rs587783364
hgdp	rs587783364
ensembl	rs587783364
geneview	rs587783364
scholar	rs587783364
google	rs587783364
pharmgkb	rs587783364
gwascentral	rs587783364
openSNP	rs587783364
23andMe	rs587783364
SNPshot	rs587783364
SNPdbe	rs587783364
MSV3d	rs587783364
GWAS Ctlg	rs587783364

Max Magnitude

0

ClinVar
Risk	rs587783364(T;T)
Alt	rs587783364(T;T)
Reference	Rs587783364(C;C)
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.41390295G>A
CLNSRC
CLNACC	RCV000145402.1,