rs137852818

Orientation

minus

Stabilized

minus

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

Make rs137852818(A;G)

Make rs137852818(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

41542717

Gene

CASK

is a	snp
is	mentioned by
dbSNP	rs137852818
dbSNP (classic)	rs137852818
ClinGen	rs137852818
ebi	rs137852818
HLI	rs137852818
Exac	rs137852818
Gnomad	rs137852818
Varsome	rs137852818
LitVar	rs137852818
Map	rs137852818
PheGenI	rs137852818
Biobank	rs137852818
1000 genomes	rs137852818
hgdp	rs137852818
ensembl	rs137852818
geneview	rs137852818
scholar	rs137852818
google	rs137852818
pharmgkb	rs137852818
gwascentral	rs137852818
openSNP	rs137852818
23andMe	rs137852818
SNPshot	rs137852818
SNPdbe	rs137852818
MSV3d	rs137852818
GWAS Ctlg	rs137852818

Max Magnitude

0

OMIM	300172
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852818(G;G)
Alt	rs137852818(G;G)
Reference	Rs137852818(A;A)
Significance	Pathogenic
Disease	FG syndrome 4
Variation	info
Gene	CASK
CLNDBN	FG syndrome 4
Reversed	1
HGVS	NC_000023.10:g.41401970T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012290.24,