rs193302910

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 rs193302910(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149503329

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs193302910
dbSNP (classic)	rs193302910
ClinGen	rs193302910
ebi	rs193302910
HLI	rs193302910
Exac	rs193302910
Gnomad	rs193302910
Varsome	rs193302910
LitVar	rs193302910
Map	rs193302910
PheGenI	rs193302910
Biobank	rs193302910
1000 genomes	rs193302910
hgdp	rs193302910
ensembl	rs193302910
geneview	rs193302910
scholar	rs193302910
google	rs193302910
pharmgkb	rs193302910
gwascentral	rs193302910
openSNP	rs193302910
23andMe	rs193302910
SNPshot	rs193302910
SNPdbe	rs193302910
MSV3d	rs193302910
GWAS Ctlg	rs193302910

Max Magnitude

3

ClinVar
Risk	rs193302910(A;A)
Alt	rs193302910(A;A)
Reference	Rs193302910(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148584859C>T
CLNSRC
CLNACC	RCV000206848.1,