rs137852820

Orientation

minus

Stabilized

minus

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

Make rs137852820(C;T)

Make rs137852820(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

41589562

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs137852820
dbSNP (classic)	rs137852820
ClinGen	rs137852820
ebi	rs137852820
HLI	rs137852820
Exac	rs137852820
Gnomad	rs137852820
Varsome	rs137852820
LitVar	rs137852820
Map	rs137852820
PheGenI	rs137852820
Biobank	rs137852820
1000 genomes	rs137852820
hgdp	rs137852820
ensembl	rs137852820
geneview	rs137852820
scholar	rs137852820
google	rs137852820
pharmgkb	rs137852820
gwascentral	rs137852820
openSNP	rs137852820
23andMe	rs137852820
SNPshot	rs137852820
SNPdbe	rs137852820
MSV3d	rs137852820
GWAS Ctlg	rs137852820

Max Magnitude

0

OMIM	300172
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852820(G;G) rs137852820(T;T)
Alt	rs137852820(G;G) rs137852820(T;T)
Reference	Rs137852820(C;C)
Significance	Pathogenic
Disease	FG syndrome 4
Variation	info
Gene	CASK
CLNDBN	FG syndrome 4
Reversed	1
HGVS	NC_000023.10:g.41448815G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012292.13,