rs864622772

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 rs864622772(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

149483006

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs864622772
dbSNP (classic)	rs864622772
ClinGen	rs864622772
ebi	rs864622772
HLI	rs864622772
Exac	rs864622772
Gnomad	rs864622772
Varsome	rs864622772
LitVar	rs864622772
Map	rs864622772
PheGenI	rs864622772
Biobank	rs864622772
1000 genomes	rs864622772
hgdp	rs864622772
ensembl	rs864622772
geneview	rs864622772
scholar	rs864622772
google	rs864622772
pharmgkb	rs864622772
gwascentral	rs864622772
openSNP	rs864622772
23andMe	rs864622772
SNPshot	rs864622772
SNPdbe	rs864622772
MSV3d	rs864622772
GWAS Ctlg	rs864622772

Max Magnitude

3

ClinVar
Risk	rs864622772(A;A) rs864622772(T;T)
Alt	rs864622772(A;A) rs864622772(T;T)
Reference	Rs864622772(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II not provided
Reversed	1
HGVS	NC_000023.10:g.148564537G>A; NC_000023.10:g.148564537G>T
CLNSRC
CLNACC	RCV000205510.1, RCV000429619.1,