rs113993946

Orientation

minus

Stabilized

minus

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

Make rs113993946(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149482996

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs113993946
dbSNP (classic)	rs113993946
ClinGen	rs113993946
ebi	rs113993946
HLI	rs113993946
Exac	rs113993946
Gnomad	rs113993946
Varsome	rs113993946
LitVar	rs113993946
Map	rs113993946
PheGenI	rs113993946
Biobank	rs113993946
1000 genomes	rs113993946
hgdp	rs113993946
ensembl	rs113993946
geneview	rs113993946
scholar	rs113993946
google	rs113993946
pharmgkb	rs113993946
gwascentral	rs113993946
openSNP	rs113993946
23andMe	rs113993946
SNPshot	rs113993946
SNPdbe	rs113993946
MSV3d	rs113993946
GWAS Ctlg	rs113993946

Max Magnitude

3

OMIM	300823
Desc
Variant	0013
Related	also

OMIM	300823
Desc
Variant	0015
Related	also

OMIM	309900
Desc
Variant
Related	also

ClinVar
Risk	rs113993946(A;A) rs113993946(C;C) rs113993946(T;T)
Alt	rs113993946(A;A) rs113993946(C;C) rs113993946(T;T)
Reference	Rs113993946(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, type II, severe form not provided Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148564527C>A; NC_000023.10:g.148564527C>G; NC_000023.10:g.148564527C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) HGMD
CLNACC	RCV000011246.6, RCV000078361.3, RCV000180472.2, RCV000011244.3, RCV000078360.3, RCV000180473.1, RCV000204179.1,