rs113993955

Orientation

minus

Stabilized

minus

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

Make rs113993955(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149504216

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs113993955
dbSNP (classic)	rs113993955
ClinGen	rs113993955
ebi	rs113993955
HLI	rs113993955
Exac	rs113993955
Gnomad	rs113993955
Varsome	rs113993955
LitVar	rs113993955
Map	rs113993955
PheGenI	rs113993955
Biobank	rs113993955
1000 genomes	rs113993955
hgdp	rs113993955
ensembl	rs113993955
geneview	rs113993955
scholar	rs113993955
google	rs113993955
pharmgkb	rs113993955
gwascentral	rs113993955
openSNP	rs113993955
23andMe	rs113993955
SNPshot	rs113993955
SNPdbe	rs113993955
MSV3d	rs113993955
GWAS Ctlg	rs113993955

Max Magnitude

3

ClinVar
Risk	rs113993955(C;C)
Alt	rs113993955(C;C)
Reference	Rs113993955(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148585746A>G
CLNSRC
CLNACC	RCV000206790.1,