rs781997631

Orientation

plus

Stabilized

plus

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

Make rs781997631(A;G)

Make rs781997631(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

149504206

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs781997631
dbSNP (classic)	rs781997631
ClinGen	rs781997631
ebi	rs781997631
HLI	rs781997631
Exac	rs781997631
Gnomad	rs781997631
Varsome	rs781997631
LitVar	rs781997631
Map	rs781997631
PheGenI	rs781997631
Biobank	rs781997631
1000 genomes	rs781997631
hgdp	rs781997631
ensembl	rs781997631
geneview	rs781997631
scholar	rs781997631
google	rs781997631
pharmgkb	rs781997631
gwascentral	rs781997631
openSNP	rs781997631
23andMe	rs781997631
SNPshot	rs781997631
SNPdbe	rs781997631
MSV3d	rs781997631
GWAS Ctlg	rs781997631

Max Magnitude

3

c.191T>A (p.Ile64Asn) and also c.191T>C (p.Ile64Thr); the former is considered pathogenic for MPS type II.

ClinVar
Risk	rs781997631(G;G) rs781997631(T;T)
Alt	rs781997631(G;G) rs781997631(T;T)
Reference	Rs781997631(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	0
HGVS	NC_000023.10:g.148585736A>T
CLNSRC
CLNACC	RCV000206626.1,