rs199422227

Orientation

minus

Stabilized

minus

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

Make rs199422227(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

149483072

Gene

IDS

is a	snp
is	mentioned by
dbSNP	rs199422227
dbSNP (classic)	rs199422227
ClinGen	rs199422227
ebi	rs199422227
HLI	rs199422227
Exac	rs199422227
Gnomad	rs199422227
Varsome	rs199422227
LitVar	rs199422227
Map	rs199422227
PheGenI	rs199422227
Biobank	rs199422227
1000 genomes	rs199422227
hgdp	rs199422227
ensembl	rs199422227
geneview	rs199422227
scholar	rs199422227
google	rs199422227
pharmgkb	rs199422227
gwascentral	rs199422227
openSNP	rs199422227
23andMe	rs199422227
SNPshot	rs199422227
SNPdbe	rs199422227
MSV3d	rs199422227
GWAS Ctlg	rs199422227

Max Magnitude

3

ClinVar
Risk	rs199422227(A;A) rs199422227(T;T)
Alt	rs199422227(A;A) rs199422227(T;T)
Reference	Rs199422227(C;C)
Significance	Pathogenic
Disease	Mucopolysaccharidosis
Variation	info
Gene	IDS
CLNDBN	Mucopolysaccharidosis, MPS-II
Reversed	1
HGVS	NC_000023.10:g.148564603G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011232.3,