rs193302914

Orientation

minus

Stabilized

minus

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

Make rs193302914(G;T)

Make rs193302914(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149501001

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs193302914
dbSNP (classic)	rs193302914
ClinGen	rs193302914
ebi	rs193302914
HLI	rs193302914
Exac	rs193302914
Gnomad	rs193302914
Varsome	rs193302914
LitVar	rs193302914
Map	rs193302914
PheGenI	rs193302914
Biobank	rs193302914
1000 genomes	rs193302914
hgdp	rs193302914
ensembl	rs193302914
geneview	rs193302914
scholar	rs193302914
google	rs193302914
pharmgkb	rs193302914
gwascentral	rs193302914
openSNP	rs193302914
23andMe	rs193302914
SNPshot	rs193302914
SNPdbe	rs193302914
MSV3d	rs193302914
GWAS Ctlg	rs193302914

Max Magnitude

0

ClinVar
Risk	rs193302914(T;T)
Alt	rs193302914(T;T)
Reference	Rs193302914(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148582532C>A
CLNSRC
CLNACC