rs864622773

Orientation

minus

Stabilized

minus

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

Make rs864622773(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

149482966

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs864622773
dbSNP (classic)	rs864622773
ClinGen	rs864622773
ebi	rs864622773
HLI	rs864622773
Exac	rs864622773
Gnomad	rs864622773
Varsome	rs864622773
LitVar	rs864622773
Map	rs864622773
PheGenI	rs864622773
Biobank	rs864622773
1000 genomes	rs864622773
hgdp	rs864622773
ensembl	rs864622773
geneview	rs864622773
scholar	rs864622773
google	rs864622773
pharmgkb	rs864622773
gwascentral	rs864622773
openSNP	rs864622773
23andMe	rs864622773
SNPshot	rs864622773
SNPdbe	rs864622773
MSV3d	rs864622773
GWAS Ctlg	rs864622773

Max Magnitude

3

ClinVar
Risk	rs864622773(G;G)
Alt	rs864622773(G;G)
Reference	Rs864622773(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148564497T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000205679.1,