rs749742837

Orientation

plus

Stabilized

plus

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

Make rs749742837(C;C)

Make rs749742837(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

41531135

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs749742837
dbSNP (classic)	rs749742837
ClinGen	rs749742837
ebi	rs749742837
HLI	rs749742837
Exac	rs749742837
Gnomad	rs749742837
Varsome	rs749742837
LitVar	rs749742837
Map	rs749742837
PheGenI	rs749742837
Biobank	rs749742837
1000 genomes	rs749742837
hgdp	rs749742837
ensembl	rs749742837
geneview	rs749742837
scholar	rs749742837
google	rs749742837
pharmgkb	rs749742837
gwascentral	rs749742837
openSNP	rs749742837
23andMe	rs749742837
SNPshot	rs749742837
SNPdbe	rs749742837
MSV3d	rs749742837
GWAS Ctlg	rs749742837

Max Magnitude

0

ClinVar
Risk	rs749742837(A;A) rs749742837(C;C)
Alt	rs749742837(A;A) rs749742837(C;C)
Reference	Rs749742837(G;G)
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	0
HGVS	NC_000023.10:g.41390388G>A
CLNSRC
CLNACC	RCV000193508.1,