rs199422231

Orientation

minus

Stabilized

minus

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

Make rs199422231(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149482997

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs199422231
dbSNP (classic)	rs199422231
ClinGen	rs199422231
ebi	rs199422231
HLI	rs199422231
Exac	rs199422231
Gnomad	rs199422231
Varsome	rs199422231
LitVar	rs199422231
Map	rs199422231
PheGenI	rs199422231
Biobank	rs199422231
1000 genomes	rs199422231
hgdp	rs199422231
ensembl	rs199422231
geneview	rs199422231
scholar	rs199422231
google	rs199422231
pharmgkb	rs199422231
gwascentral	rs199422231
openSNP	rs199422231
23andMe	rs199422231
SNPshot	rs199422231
SNPdbe	rs199422231
MSV3d	rs199422231
GWAS Ctlg	rs199422231

Max Magnitude

3

ClinVar
Risk	rs199422231(T;T)
Alt	rs199422231(T;T)
Reference	Rs199422231(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, type II, mild form Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148564528G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011243.3, RCV000180471.1,