rs587783362

Orientation

minus

Stabilized

minus

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

Make rs587783362(-;-)

Make rs587783362(-;TGTTCGAG)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

41922962

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs587783362
dbSNP (classic)	rs587783362
ClinGen	rs587783362
ebi	rs587783362
HLI	rs587783362
Exac	rs587783362
Gnomad	rs587783362
Varsome	rs587783362
LitVar	rs587783362
Map	rs587783362
PheGenI	rs587783362
Biobank	rs587783362
1000 genomes	rs587783362
hgdp	rs587783362
ensembl	rs587783362
geneview	rs587783362
scholar	rs587783362
google	rs587783362
pharmgkb	rs587783362
gwascentral	rs587783362
openSNP	rs587783362
23andMe	rs587783362
SNPshot	rs587783362
SNPdbe	rs587783362
MSV3d	rs587783362
GWAS Ctlg	rs587783362

Max Magnitude

0

ClinVar
Risk	rs587783362(-;-)
Alt	rs587783362(-;-)
Reference	Rs587783362(TGTTCGAG;TGTTCGAG)
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.41782215_41782222delCTCGAACA
CLNSRC
CLNACC	RCV000145399.1,