rs137852819

Orientation

minus

Stabilized

minus

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

Make rs137852819(C;C)

Make rs137852819(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

41520446

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs137852819
dbSNP (classic)	rs137852819
ClinGen	rs137852819
ebi	rs137852819
HLI	rs137852819
Exac	rs137852819
Gnomad	rs137852819
Varsome	rs137852819
LitVar	rs137852819
Map	rs137852819
PheGenI	rs137852819
Biobank	rs137852819
1000 genomes	rs137852819
hgdp	rs137852819
ensembl	rs137852819
geneview	rs137852819
scholar	rs137852819
google	rs137852819
pharmgkb	rs137852819
gwascentral	rs137852819
openSNP	rs137852819
23andMe	rs137852819
SNPshot	rs137852819
SNPdbe	rs137852819
MSV3d	rs137852819
GWAS Ctlg	rs137852819

Max Magnitude

0

OMIM	300172
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852819(C;C)
Alt	rs137852819(C;C)
Reference	Rs137852819(T;T)
Significance	Pathogenic
Disease	FG syndrome 4
Variation	info
Gene	CASK
CLNDBN	FG syndrome 4
Reversed	1
HGVS	NC_000023.10:g.41379699A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012291.22,