rs138504221

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a Sanfilippo syndrome type A mutation

Make rs138504221(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80212128

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs138504221
dbSNP (classic)	rs138504221
ClinGen	rs138504221
ebi	rs138504221
HLI	rs138504221
Exac	rs138504221
Gnomad	rs138504221
Varsome	rs138504221
LitVar	rs138504221
Map	rs138504221
PheGenI	rs138504221
Biobank	rs138504221
1000 genomes	rs138504221
hgdp	rs138504221
ensembl	rs138504221
geneview	rs138504221
scholar	rs138504221
google	rs138504221
pharmgkb	rs138504221
gwascentral	rs138504221
openSNP	rs138504221
23andMe	rs138504221
SNPshot	rs138504221
SNPdbe	rs138504221
MSV3d	rs138504221
GWAS Ctlg	rs138504221

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs138504221(G;G)
Alt	rs138504221(G;G)
Reference	Rs138504221(A;A)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided Sanfilippo syndrome
Variation	info
Gene	SGSH
CLNDBN	Mucopolysaccharidosis, MPS-III-A not provided Sanfilippo syndrome
Reversed	0
HGVS	NC_000017.10:g.78185927A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023412.5, RCV000078357.5, RCV000326423.1,