rs113993948

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs113993948(C;T)

Make rs113993948(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149486983

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs113993948
dbSNP (classic)	rs113993948
ClinGen	rs113993948
ebi	rs113993948
HLI	rs113993948
Exac	rs113993948
Gnomad	rs113993948
Varsome	rs113993948
LitVar	rs113993948
Map	rs113993948
PheGenI	rs113993948
Biobank	rs113993948
1000 genomes	rs113993948
hgdp	rs113993948
ensembl	rs113993948
geneview	rs113993948
scholar	rs113993948
google	rs113993948
pharmgkb	rs113993948
gwascentral	rs113993948
openSNP	rs113993948
23andMe	rs113993948
SNPshot	rs113993948
SNPdbe	rs113993948
MSV3d	rs113993948
GWAS Ctlg	rs113993948

Max Magnitude

0

ClinVar
Risk	rs113993948(T;T)
Alt	rs113993948(T;T)
Reference	Rs113993948(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148568514G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011237.4,