rs113993952

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	3	Carrier of a MPS II mutation; note X-linkage

Make rs113993952(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149503494

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs113993952
dbSNP (classic)	rs113993952
ClinGen	rs113993952
ebi	rs113993952
HLI	rs113993952
Exac	rs113993952
Gnomad	rs113993952
Varsome	rs113993952
LitVar	rs113993952
Map	rs113993952
PheGenI	rs113993952
Biobank	rs113993952
1000 genomes	rs113993952
hgdp	rs113993952
ensembl	rs113993952
geneview	rs113993952
scholar	rs113993952
google	rs113993952
pharmgkb	rs113993952
gwascentral	rs113993952
openSNP	rs113993952
23andMe	rs113993952
SNPshot	rs113993952
SNPdbe	rs113993952
MSV3d	rs113993952
GWAS Ctlg	rs113993952

Max Magnitude

3

ClinVar
Risk	rs113993952(T;T)
Alt	rs113993952(T;T)
Reference	Rs113993952(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148585024T>A
CLNSRC
CLNACC	RCV000205544.1,