rs797045431

Orientation

minus

Stabilized

minus

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

Make rs797045431(-;-)

Make rs797045431(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

41553777

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs797045431
dbSNP (classic)	rs797045431
ClinGen	rs797045431
ebi	rs797045431
HLI	rs797045431
Exac	rs797045431
Gnomad	rs797045431
Varsome	rs797045431
LitVar	rs797045431
Map	rs797045431
PheGenI	rs797045431
Biobank	rs797045431
1000 genomes	rs797045431
hgdp	rs797045431
ensembl	rs797045431
geneview	rs797045431
scholar	rs797045431
google	rs797045431
pharmgkb	rs797045431
gwascentral	rs797045431
openSNP	rs797045431
23andMe	rs797045431
SNPshot	rs797045431
SNPdbe	rs797045431
MSV3d	rs797045431
GWAS Ctlg	rs797045431

Max Magnitude

0

ClinVar
Risk	rs797045431(-;-)
Alt	rs797045431(-;-)
Reference	Rs797045431(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.41413030delG
CLNSRC
CLNACC	RCV000194542.1,