rs104894861

Orientation

minus

Stabilized

minus

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

Make rs104894861(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149503326

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs104894861
dbSNP (classic)	rs104894861
ClinGen	rs104894861
ebi	rs104894861
HLI	rs104894861
Exac	rs104894861
Gnomad	rs104894861
Varsome	rs104894861
LitVar	rs104894861
Map	rs104894861
PheGenI	rs104894861
Biobank	rs104894861
1000 genomes	rs104894861
hgdp	rs104894861
ensembl	rs104894861
geneview	rs104894861
scholar	rs104894861
google	rs104894861
pharmgkb	rs104894861
gwascentral	rs104894861
openSNP	rs104894861
23andMe	rs104894861
SNPshot	rs104894861
SNPdbe	rs104894861
MSV3d	rs104894861
GWAS Ctlg	rs104894861

Merged from

Rs28937311

Max Magnitude

3

OMIM	300823
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894861(G;G)
Alt	rs104894861(G;G)
Reference	Rs104894861(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148584856T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011240.7,