rs864622777

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

Make rs864622777(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

149483219

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs864622777
dbSNP (classic)	rs864622777
ClinGen	rs864622777
ebi	rs864622777
HLI	rs864622777
Exac	rs864622777
Gnomad	rs864622777
Varsome	rs864622777
LitVar	rs864622777
Map	rs864622777
PheGenI	rs864622777
Biobank	rs864622777
1000 genomes	rs864622777
hgdp	rs864622777
ensembl	rs864622777
geneview	rs864622777
scholar	rs864622777
google	rs864622777
pharmgkb	rs864622777
gwascentral	rs864622777
openSNP	rs864622777
23andMe	rs864622777
SNPshot	rs864622777
SNPdbe	rs864622777
MSV3d	rs864622777
GWAS Ctlg	rs864622777

Max Magnitude

3

ClinVar
Risk	rs864622777(A;A)
Alt	rs864622777(A;A)
Reference	Rs864622777(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148564750C>T
CLNSRC
CLNACC	RCV000204452.1,