rs398122844

Orientation

minus

Stabilized

minus

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

Make rs398122844(A;G)

Make rs398122844(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

41534946

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs398122844
dbSNP (classic)	rs398122844
ClinGen	rs398122844
ebi	rs398122844
HLI	rs398122844
Exac	rs398122844
Gnomad	rs398122844
Varsome	rs398122844
LitVar	rs398122844
Map	rs398122844
PheGenI	rs398122844
Biobank	rs398122844
1000 genomes	rs398122844
hgdp	rs398122844
ensembl	rs398122844
geneview	rs398122844
scholar	rs398122844
google	rs398122844
pharmgkb	rs398122844
gwascentral	rs398122844
openSNP	rs398122844
23andMe	rs398122844
SNPshot	rs398122844
SNPdbe	rs398122844
MSV3d	rs398122844
GWAS Ctlg	rs398122844

Max Magnitude

0

ClinVar
Risk	rs398122844(G;G)
Alt	rs398122844(G;G)
Reference	Rs398122844(A;A)
Significance	Pathogenic
Disease	FG syndrome 4 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Variation	info
Gene	CASK
CLNDBN	FG syndrome 4 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Reversed	1
HGVS	NC_000023.10:g.41394199T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022829.11, RCV000193589.1,