rs387906705

Orientation

minus

Stabilized

minus

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

Make rs387906705(C;T)

Make rs387906705(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

41561588

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs387906705
dbSNP (classic)	rs387906705
ClinGen	rs387906705
ebi	rs387906705
HLI	rs387906705
Exac	rs387906705
Gnomad	rs387906705
Varsome	rs387906705
LitVar	rs387906705
Map	rs387906705
PheGenI	rs387906705
Biobank	rs387906705
1000 genomes	rs387906705
hgdp	rs387906705
ensembl	rs387906705
geneview	rs387906705
scholar	rs387906705
google	rs387906705
pharmgkb	rs387906705
gwascentral	rs387906705
openSNP	rs387906705
23andMe	rs387906705
SNPshot	rs387906705
SNPdbe	rs387906705
MSV3d	rs387906705
GWAS Ctlg	rs387906705

Max Magnitude

0

ClinVar
Risk	rs387906705(T;T)
Alt	rs387906705(T;T)
Reference	Rs387906705(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.41420841G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022833.13,