rs113993947

Orientation

minus

Stabilized

minus

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

Make rs113993947(A;A)

Make rs113993947(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149498308

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs113993947
dbSNP (classic)	rs113993947
ClinGen	rs113993947
ebi	rs113993947
HLI	rs113993947
Exac	rs113993947
Gnomad	rs113993947
Varsome	rs113993947
LitVar	rs113993947
Map	rs113993947
PheGenI	rs113993947
Biobank	rs113993947
1000 genomes	rs113993947
hgdp	rs113993947
ensembl	rs113993947
geneview	rs113993947
scholar	rs113993947
google	rs113993947
pharmgkb	rs113993947
gwascentral	rs113993947
openSNP	rs113993947
23andMe	rs113993947
SNPshot	rs113993947
SNPdbe	rs113993947
MSV3d	rs113993947
GWAS Ctlg	rs113993947

Max Magnitude

0

ClinVar
Risk	rs113993947(A;A) rs113993947(C;C)
Alt	rs113993947(A;A) rs113993947(C;C)
Reference	Rs113993947(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148579839C>G; NC_000023.10:g.148579839C>T
CLNSRC
CLNACC	RCV000207376.1, RCV000206667.1,