rs193302911

Orientation

minus

Stabilized

minus

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

Make rs193302911(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149503371

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs193302911
dbSNP (classic)	rs193302911
ClinGen	rs193302911
ebi	rs193302911
HLI	rs193302911
Exac	rs193302911
Gnomad	rs193302911
Varsome	rs193302911
LitVar	rs193302911
Map	rs193302911
PheGenI	rs193302911
Biobank	rs193302911
1000 genomes	rs193302911
hgdp	rs193302911
ensembl	rs193302911
geneview	rs193302911
scholar	rs193302911
google	rs193302911
pharmgkb	rs193302911
gwascentral	rs193302911
openSNP	rs193302911
23andMe	rs193302911
SNPshot	rs193302911
SNPdbe	rs193302911
MSV3d	rs193302911
GWAS Ctlg	rs193302911

Max Magnitude

3

ClinVar
Risk	rs193302911(A;A)
Alt	rs193302911(A;A)
Reference	Rs193302911(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148584901G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000205759.1,