rs199422229

Orientation

minus

Stabilized

minus

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

Make rs199422229(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149483135

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs199422229
dbSNP (classic)	rs199422229
ClinGen	rs199422229
ebi	rs199422229
HLI	rs199422229
Exac	rs199422229
Gnomad	rs199422229
Varsome	rs199422229
LitVar	rs199422229
Map	rs199422229
PheGenI	rs199422229
Biobank	rs199422229
1000 genomes	rs199422229
hgdp	rs199422229
ensembl	rs199422229
geneview	rs199422229
scholar	rs199422229
google	rs199422229
pharmgkb	rs199422229
gwascentral	rs199422229
openSNP	rs199422229
23andMe	rs199422229
SNPshot	rs199422229
SNPdbe	rs199422229
MSV3d	rs199422229
GWAS Ctlg	rs199422229

Merged from

Rs28937310

Max Magnitude

3

ClinVar
Risk	rs199422229(G;G)
Alt	rs199422229(G;G)
Reference	Rs199422229(T;T)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148564666A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011239.3,